Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust (North Thames Genomic Laboratory Hub)
General information
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust
North Thames Genomic Laboratory Hub
London
United Kingdom - WC1N 3JH
https://norththamesgenomics.nhs.uk
Organization ID: 509173
North Thames Genomic Laboratory Hub
London
United Kingdom - WC1N 3JH
https://norththamesgenomics.nhs.uk
Organization ID: 509173
Personnel
- Patrick Lombard, Informatics staff
Phone: 02078298764
Email: patrick.lombard@gosh.nhs.uk - Sam Loughlin, Lab Associate Director
Phone: 02077626888
Email: sam.loughlin@gosh.nhs.uk
Assertion criteria
Level: Assertion criteria provided
- ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024 v1.2
- CanVIG APC Gene Specific V1.1
- CanVIG ATM Gene Specific V1.1
- CanVIG ATM Gene Specific V1.2
- CanVIG BRCA Gene Specific V1.15
- CanVIG BRCA Gene Specific V1.19
- CanVIG BRCA Gene Specific V1.22
- CanVIG CDH1 Gene Specific
- CanVIG CHEK2 Gene Specific V1.0
- CanVIG CHEK2 Gene Specific V1.1
- CanVIG CHEK2 Gene Specific V1.2
- CanVIG Consensus Spec V2.16
- CanVIG Consensus Spec V2.18
- CanVIG Consensus Spec V3.0
- CanVIG MMR Gene Specific V1.5
- CanVIG MMR Gene Specific V1.6
- CanVIG MMR Gene Specific V1.7
- CanVIG PALB2 Gene Specific V1.2
- CanVIG PTEN Gene Specific V1.0
- CanVIG PTEN Gene Specific V1.1
- CanVIG PTEN Gene Specific V1.2
- CanVIG RAD51CD Gene Specific V1.0
- CanVIG RAD51CD Gene Specific V1.2
- CanVIG SDH Gene Specific V1.3
- CanVIG TP53 Gene Specific V1.5
- CanVIG TP53 Gene Specific V1.6
- ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1
- ClinGen HBOP ACMG Specifications ATM Version 1.3
- ClinGen LDLR ACMG Specifications (J.R. Chora et al. 2021)
Summary of submissions to ClinVar
Total submissions: 1866
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS2 | 1 | Apr 18, 2026 |
| ABCA12 | 1 | Jan 30, 2026 |
| ABCA4 | 42 | Aug 15, 2026 |
| ABCC6 | 3 | Aug 8, 2026 |
| ACAD9 | 1 | Oct 19, 2025 |
| ACADM | 7 | May 13, 2026 |
| ACBD5 | 1 | Dec 21, 2025 |
| ACBD6 | 1 | May 23, 2026 |
| ACE | 1 | May 28, 2026 |
| ACO2 | 4 | Jul 17, 2026 |
| ACTG1 | 3 | Jul 14, 2026 |
| ADAMTS17 | 1 | Jul 9, 2026 |
| ADAMTS18 | 1 | Dec 16, 2025 |
| ADAMTSL4 | 1 | Aug 3, 2026 |
| ADAMTSL4-AS2 | 1 | Aug 3, 2026 |
| ADGRV1 | 11 | Jul 31, 2026 |
| AFG2A | 1 | Feb 4, 2026 |
| AFG3L2 | 2 | Apr 19, 2026 |
| AGK | 1 | Jul 18, 2026 |
| AGL | 5 | Aug 10, 2026 |
| AGT | 1 | Dec 16, 2025 |
| AHI1 | 3 | May 15, 2026 |
| AIPL1 | 1 | Feb 1, 2026 |
| AIRE | 4 | Aug 14, 2026 |
| ALDH1A3 | 2 | Jun 29, 2026 |
| ALDH1A3-AS1 | 2 | Jun 29, 2026 |
| ALDOA | 1 | Jun 7, 2026 |
| ALDOB | 1 | Jan 25, 2026 |
| ALG1 | 1 | May 15, 2026 |
| ALG6 | 1 | Apr 19, 2026 |
| ALG8 | 1 | Jan 20, 2026 |
| ALMS1 | 1 | Dec 11, 2025 |
| ALOX12B | 8 | Jul 12, 2026 |
| ALOXE3 | 3 | Jun 26, 2026 |
| ALPL | 1 | Apr 13, 2026 |
| AMPD2 | 1 | Jul 13, 2026 |
| APOB | 15 | Aug 1, 2026 |
| APOE | 1 | Apr 20, 2026 |
| ARSA | 3 | May 3, 2026 |
| ASAH1 | 1 | Aug 10, 2026 |
| ATF6 | 1 | Mar 27, 2025 |
| ATM | 18 | Jun 27, 2026 |
| ATP1A2 | 3 | May 25, 2026 |
| ATP2A1 | 2 | Jun 3, 2026 |
| ATP6V0A2 | 1 | May 24, 2026 |
| ATP6V0A4 | 3 | Mar 10, 2026 |
| ATP6V1B1 | 4 | Dec 29, 2025 |
| ATRIP | 1 | May 16, 2026 |
| ATRIP-TREX1 | 1 | May 16, 2026 |
| AVPR2 | 2 | May 25, 2026 |
| AXIN2 | 1 | Jan 5, 2026 |
| B3GALT6 | 1 | Apr 10, 2026 |
| B4GALT7 | 2 | Apr 28, 2026 |
| BBS1 | 1 | Dec 23, 2025 |
| BBS2 | 2 | Feb 8, 2026 |
| BBS5 | 1 | Oct 25, 2025 |
| BBS7 | 1 | Apr 11, 2026 |
| BBS9 | 2 | Oct 14, 2025 |
| BEST1 | 6 | May 26, 2026 |
| BICD2 | 1 | Apr 4, 2026 |
| BRAT1 | 1 | Apr 26, 2026 |
| BRCA1 | 78 | Aug 11, 2026 |
| BRCA2 | 92 | Aug 2, 2026 |
| BRIP1 | 12 | Aug 3, 2026 |
| BSND | 1 | Jul 5, 2026 |
| BTD | 5 | Jul 26, 2026 |
| BTK | 4 | Jun 21, 2026 |
| C11orf65 | 10 | Jun 14, 2026 |
| C12orf60 | 1 | Apr 7, 2026 |
| C1QTNF5 | 1 | May 26, 2026 |
| C2CD3 | 4 | Jun 10, 2026 |
| CABP2 | 3 | Aug 2, 2026 |
| CACNA1A | 1 | Feb 10, 2026 |
| CACNA1F | 3 | Dec 8, 2025 |
| CACNA1S | 2 | Jun 4, 2026 |
| CACNA2D4 | 2 | Jul 4, 2026 |
| CCBE1 | 1 | Jun 9, 2026 |
| CCDC88C | 1 | Apr 4, 2026 |
| CCDST | 11 | Jul 20, 2026 |
| CCNH | 3 | Jun 28, 2026 |
| CDC14A | 2 | Nov 4, 2025 |
| CDH1 | 2 | Oct 5, 2025 |
| CDH23 | 8 | Jun 21, 2026 |
| CDH3 | 1 | Apr 14, 2026 |
| CDHR1 | 1 | Mar 8, 2026 |
| CDKL5 | 8 | Jul 26, 2026 |
| CEP164 | 1 | Apr 28, 2026 |
| CEP250 | 2 | Dec 8, 2025 |
| CEP290 | 7 | Jun 20, 2026 |
| CERKL | 2 | Apr 11, 2026 |
| CERS3 | 4 | Jul 20, 2026 |
| CERS3-AS1 | 2 | Jul 18, 2026 |
| CFAP410 | 1 | Jan 29, 2026 |
| CFTR | 6 | Apr 29, 2026 |
| CFTR-AS1 | 3 | Apr 29, 2026 |
| CFTR-AS2 | 1 | Apr 17, 2026 |
| CHD7 | 3 | May 8, 2026 |
| CHEK2 | 10 | Jul 27, 2026 |
| CHRNG | 1 | May 23, 2026 |
| CLASP1 | 4 | May 17, 2026 |
| CLASP1-AS1 | 4 | May 17, 2026 |
| CLCN1 | 26 | Aug 4, 2026 |
| CLCNKB | 2 | Jul 13, 2026 |
| CLDN14 | 1 | Sep 21, 2025 |
| CLDN14-AS1 | 1 | Sep 21, 2025 |
| CLDN19 | 1 | Feb 13, 2026 |
| CLN6 | 1 | Apr 9, 2026 |
| CLRN1 | 1 | Mar 29, 2026 |
| CNGA1 | 2 | May 19, 2026 |
| CNGA3 | 3 | Feb 8, 2026 |
| CNGB1 | 4 | Apr 20, 2026 |
| CNGB3 | 2 | Mar 15, 2026 |
| CNTNAP1 | 1 | May 23, 2026 |
| COCH | 1 | Jul 11, 2026 |
| COCH-AS1 | 1 | Jul 11, 2026 |
| COG4 | 2 | May 29, 2026 |
| COG5 | 1 | May 23, 2026 |
| COG6 | 1 | Apr 18, 2026 |
| COL11A2 | 5 | Jan 29, 2026 |
| COL18A1 | 2 | Apr 10, 2026 |
| COL2A1 | 3 | May 18, 2026 |
| COL4A1 | 1 | Apr 7, 2026 |
| COL4A2 | 1 | May 22, 2026 |
| COL4A2-AS1 | 1 | May 22, 2026 |
| COL4A3 | 20 | Aug 14, 2026 |
| COL4A4 | 33 | Aug 3, 2026 |
| COL4A5 | 30 | Aug 13, 2026 |
| COL6A3 | 1 | May 15, 2026 |
| COL9A1 | 1 | Feb 27, 2026 |
| COL9A2 | 3 | Dec 6, 2025 |
| COQ4 | 1 | May 15, 2026 |
| COQ8A | 2 | Nov 1, 2025 |
| COQ8B | 1 | Jan 26, 2026 |
| COQ9 | 1 | Jul 18, 2026 |
| CRB1 | 3 | May 17, 2026 |
| CREBBP | 1 | Apr 18, 2026 |
| CRIPT | 1 | May 2, 2026 |
| CRX | 1 | Aug 11, 2026 |
| CTC1 | 2 | May 25, 2026 |
| CTNS | 8 | Jul 30, 2026 |
| CTNS-AS1 | 2 | Jul 30, 2026 |
| CTSD | 1 | Apr 28, 2026 |
| CYLD | 11 | Aug 10, 2026 |
| CYLD-AS2 | 9 | Aug 10, 2026 |
| CYP21A2 | 2 | Apr 29, 2026 |
| CYP24A1 | 4 | Jun 14, 2026 |
| CYP4F22 | 1 | Jun 9, 2026 |
| CYP4V2 | 1 | Feb 13, 2026 |
| DARS2 | 1 | Apr 20, 2026 |
| DCHS1 | 1 | May 23, 2026 |
| DCTN5 | 2 | Jan 10, 2026 |
| DDX11 | 1 | Apr 29, 2026 |
| DHCR7 | 2 | Apr 10, 2026 |
| DLG5 | 1 | May 19, 2026 |
| DMP1-AS1 | 1 | Dec 6, 2025 |
| DNAH5 | 1 | May 9, 2026 |
| DNAH5-AS1 | 1 | May 9, 2026 |
| DNAH9 | 3 | Apr 26, 2026 |
| DNAI1 | 1 | Apr 7, 2026 |
| DNM2 | 1 | Dec 21, 2025 |
| DOK7 | 1 | May 9, 2026 |
| DONSON | 1 | May 16, 2026 |
| DOP1A | 1 | May 18, 2026 |
| DPAGT1 | 1 | May 6, 2026 |
| DRAM2 | 1 | Mar 15, 2026 |
| DSE | 1 | Jun 6, 2026 |
| DSG1-AS1 | 1 | Sep 28, 2025 |
| DSG4 | 1 | Sep 28, 2025 |
| DSP | 1 | May 2, 2026 |
| DSPP | 1 | Dec 6, 2025 |
| DYNC2H1 | 3 | Apr 20, 2026 |
| DYNC2I1 | 1 | Sep 20, 2025 |
| EDA | 4 | Jun 20, 2026 |
| EDAR | 3 | Jan 25, 2026 |
| EDARADD | 1 | Mar 27, 2025 |
| EDNRB | 3 | Apr 5, 2026 |
| EDNRB-AS1 | 3 | Apr 5, 2026 |
| EFEMP1 | 1 | Jun 12, 2026 |
| EFNB1 | 1 | Aug 11, 2026 |
| ELP4 | 1 | Jun 27, 2026 |
| EPHA2 | 1 | Apr 20, 2026 |
| EPHB4 | 1 | Jun 23, 2026 |
| ERCC2 | 1 | Apr 19, 2026 |
| ERF | 4 | Aug 11, 2026 |
| ESRRB | 1 | Nov 28, 2025 |
| ETFA | 1 | Apr 10, 2026 |
| EVC | 1 | May 15, 2026 |
| EYA1 | 4 | Jul 6, 2026 |
| EYA4 | 1 | Jan 2, 2026 |
| EYS | 4 | Jun 7, 2026 |
| FAH | 1 | Jan 13, 2026 |
| FANCD2 | 2 | Apr 20, 2026 |
| FANCI | 1 | May 22, 2026 |
| FAS | 1 | Feb 15, 2026 |
| FBN1 | 2 | Jun 15, 2026 |
| FBP1 | 1 | Mar 21, 2026 |
| FGFR2 | 9 | Aug 11, 2026 |
| FGFR3 | 5 | Aug 11, 2026 |
| FH | 3 | Jun 27, 2026 |
| FLCN | 6 | Jun 27, 2026 |
| FLG | 11 | Jul 20, 2026 |
| FLNA | 1 | Apr 25, 2026 |
| FLVCR1 | 1 | May 2, 2026 |
| FOXC1 | 2 | Apr 27, 2026 |
| FYCO1 | 1 | May 26, 2026 |
| FZD4 | 1 | Jan 2, 2026 |
| G6PC1 | 3 | Apr 28, 2026 |
| GAA | 8 | May 18, 2026 |
| GALC | 1 | Apr 7, 2026 |
| GALT | 2 | May 9, 2026 |
| GATA3 | 1 | Nov 20, 2025 |
| GBE1 | 1 | Nov 22, 2025 |
| GCDH | 2 | Nov 28, 2025 |
| GH-LCR | 7 | Jul 17, 2026 |
| GIPC3 | 1 | Jan 10, 2026 |
| GJB2 | 28 | Aug 13, 2026 |
| GJB3 | 1 | Feb 14, 2026 |
| GJB4 | 1 | Jul 27, 2026 |
| GJB6 | 3 | May 30, 2026 |
| GLA | 21 | Jul 31, 2026 |
| GLB1 | 5 | Apr 12, 2026 |
| GLMN | 7 | Aug 13, 2026 |
| GMPPB | 1 | May 4, 2026 |
| GPR143 | 2 | Mar 9, 2026 |
| GPR179 | 2 | May 30, 2026 |
| GPSM2 | 2 | Apr 19, 2026 |
| GRK1 | 1 | Apr 27, 2026 |
| GRM7 | 1 | Apr 17, 2026 |
| GRXCR1 | 1 | Dec 4, 2025 |
| GSDME | 1 | Nov 8, 2025 |
| GUCA1A | 1 | Nov 11, 2025 |
| GUCA1ANB-GUCA1A | 1 | Nov 11, 2025 |
| GUCY2C | 1 | Apr 7, 2026 |
| GUCY2C-AS1 | 1 | Apr 7, 2026 |
| GUCY2D | 5 | Jul 27, 2026 |
| HAAO | 1 | Nov 29, 2025 |
| HARS2 | 1 | Apr 6, 2026 |
| HAVCR2 | 1 | Jul 20, 2026 |
| HGSNAT | 1 | Jan 21, 2026 |
| HPGD | 1 | Aug 13, 2026 |
| HRAS | 1 | May 1, 2026 |
| HSALR1 | 2 | Apr 25, 2026 |
| HSD17B4 | 1 | Dec 6, 2025 |
| IARS2 | 1 | May 5, 2026 |
| IBA57 | 1 | Oct 12, 2025 |
| IDS | 1 | Dec 16, 2025 |
| IDUA | 3 | May 29, 2026 |
| IFT140 | 10 | Apr 27, 2026 |
| IFT172 | 1 | Feb 6, 2026 |
| IFT74 | 2 | Aug 2, 2026 |
| IL2RG | 3 | Jun 18, 2026 |
| ILDR1 | 1 | May 9, 2026 |
| IMPDH1 | 1 | Mar 23, 2026 |
| IMPG2 | 2 | Jun 9, 2026 |
| IQCB1 | 2 | Dec 19, 2025 |
| IRF6 | 12 | Jun 23, 2026 |
| IRX5 | 1 | Aug 10, 2026 |
| ITGB4 | 1 | May 12, 2026 |
| JUP | 1 | Sep 21, 2025 |
| KCNJ1 | 4 | Aug 11, 2026 |
| KCNJ2 | 1 | Feb 27, 2026 |
| KCNQ1 | 2 | Oct 13, 2025 |
| KCNQ4 | 1 | Jun 19, 2026 |
| KCNV2 | 1 | Jul 13, 2026 |
| KIAA0586 | 1 | May 14, 2026 |
| KLHL3 | 3 | Feb 15, 2026 |
| KRAS | 2 | May 18, 2026 |
| KRT10 | 1 | Jan 2, 2026 |
| KRT10-AS1 | 1 | Jan 2, 2026 |
| KRT16 | 1 | May 16, 2026 |
| KRT2 | 1 | May 18, 2026 |
| KRT9 | 1 | Mar 18, 2026 |
| LAMA1 | 1 | Nov 25, 2025 |
| LAMA2 | 1 | Apr 6, 2026 |
| LAMB1 | 1 | Apr 30, 2026 |
| LARS2 | 1 | Mar 17, 2026 |
| LARS2-AS1 | 1 | Mar 17, 2026 |
| LCA5 | 1 | Apr 3, 2026 |
| LDLR | 171 | Aug 10, 2026 |
| LDLR-AS1 | 4 | Apr 27, 2026 |
| LEMD3 | 3 | Mar 30, 2026 |
| LETM1 | 1 | Apr 3, 2026 |
| LFNG | 1 | Apr 9, 2026 |
| LGI3 | 1 | Jun 6, 2026 |
| LHFPL5 | 1 | Dec 9, 2025 |
| LHX4 | 1 | May 23, 2026 |
| LHX4-AS1 | 1 | May 23, 2026 |
| LIX1L-AS1 | 2 | Apr 4, 2026 |
| LMX1A | 1 | Oct 12, 2025 |
| LOC101927157 | 2 | May 19, 2026 |
| LOC105371046 | 4 | Apr 27, 2026 |
| LOC105371566 | 6 | Jun 21, 2026 |
| LOC106050102 | 1 | Dec 16, 2025 |
| LOC106501713 | 2 | Jul 13, 2026 |
| LOC106780800 | 2 | Apr 29, 2026 |
| LOC107303338 | 2 | Apr 20, 2026 |
| LOC107303340 | 2 | May 26, 2026 |
| LOC112694756 | 1 | Jun 7, 2026 |
| LOC112806037 | 1 | Dec 19, 2025 |
| LOC119407423 | 1 | Apr 6, 2026 |
| LOC123956210 | 1 | Nov 14, 2025 |
| LOC123956257 | 1 | Jun 30, 2026 |
| LOC125146421 | 1 | Apr 19, 2026 |
| LOC126653398 | 1 | Mar 22, 2026 |
| LOC126805793 | 2 | May 17, 2026 |
| LOC126805822 | 1 | Jul 13, 2026 |
| LOC126805851 | 2 | Apr 4, 2026 |
| LOC126806368 | 1 | Apr 28, 2026 |
| LOC126862361 | 1 | Mar 6, 2026 |
| LOC126862571 | 17 | Jul 12, 2026 |
| LOC129930261 | 3 | Dec 6, 2025 |
| LOC129930668 | 1 | Apr 21, 2026 |
| LOC129931299 | 1 | Jun 27, 2026 |
| LOC129992137 | 1 | Aug 13, 2026 |
| LOC129992813 | 2 | Dec 14, 2025 |
| LOC129998021 | 6 | Aug 11, 2026 |
| LOC130060198 | 1 | Jan 2, 2026 |
| LOC130067016 | 1 | Oct 5, 2025 |
| LONP1 | 1 | Apr 9, 2026 |
| LOXHD1 | 5 | Apr 11, 2026 |
| LRP2 | 1 | Jun 11, 2026 |
| LRP5 | 2 | May 23, 2026 |
| LRP6 | 1 | Dec 8, 2025 |
| LRRC56 | 1 | May 1, 2026 |
| LTBP1 | 1 | May 25, 2026 |
| LURAP1L-AS1 | 1 | May 25, 2026 |
| LYST | 1 | Jun 15, 2026 |
| LZTR1 | 5 | May 19, 2026 |
| MAGED2 | 1 | Feb 13, 2026 |
| MARVELD2 | 2 | Jun 22, 2026 |
| MASP1 | 2 | Aug 2, 2026 |
| MERTK | 2 | Dec 19, 2025 |
| MFF | 1 | Jul 26, 2026 |
| MFF-DT | 20 | Aug 14, 2026 |
| MFN2 | 1 | May 29, 2026 |
| MFRP | 1 | May 26, 2026 |
| MFSD8 | 1 | Oct 19, 2025 |
| MIA3 | 1 | Jun 28, 2026 |
| MIR1225 | 2 | Apr 5, 2026 |
| MIR6886 | 1 | Aug 9, 2026 |
| MIR9718 | 3 | Apr 13, 2026 |
| MITF | 5 | Aug 3, 2026 |
| MKS1 | 1 | Apr 28, 2026 |
| MLC1 | 2 | May 15, 2026 |
| MLH1 | 16 | Aug 8, 2026 |
| MMACHC | 1 | May 12, 2026 |
| MMADHC | 1 | Apr 28, 2026 |
| MPDZ | 1 | May 12, 2026 |
| MPV17 | 1 | Oct 21, 2025 |
| MPZL2 | 2 | Apr 7, 2026 |
| MSH2 | 24 | Aug 10, 2026 |
| MSH6 | 17 | Jul 27, 2026 |
| MSTO1 | 1 | Feb 15, 2026 |
| MSX1 | 1 | Aug 13, 2026 |
| MTFMT | 2 | Jun 13, 2026 |
| MTO1 | 2 | May 2, 2026 |
| MTTP | 1 | Mar 3, 2026 |
| MUSK | 1 | Apr 24, 2026 |
| MVK | 1 | May 26, 2026 |
| MVP-DT | 1 | Apr 10, 2026 |
| MYH10 | 1 | Apr 4, 2026 |
| MYH9 | 1 | May 30, 2026 |
| MYO15A | 15 | Jul 6, 2026 |
| MYO18B | 1 | May 11, 2026 |
| MYO19 | 1 | Jun 7, 2026 |
| MYO3A | 1 | Dec 1, 2025 |
| MYO6 | 4 | Jul 11, 2026 |
| MYO7A | 10 | Aug 9, 2026 |
| NAGA | 1 | Apr 18, 2026 |
| NAGLU | 1 | Nov 14, 2025 |
| NBAS | 7 | Aug 10, 2026 |
| NDP | 2 | Apr 25, 2026 |
| NDP-AS1 | 2 | Apr 25, 2026 |
| NDUFA6 | 1 | May 31, 2026 |
| NDUFS7 | 1 | Apr 20, 2026 |
| NEB | 1 | May 16, 2026 |
| NEK1 | 1 | Apr 28, 2026 |
| NEK8 | 1 | May 2, 2026 |
| NEU1 | 2 | May 12, 2026 |
| NF1 | 4 | May 24, 2026 |
| NIPAL4 | 5 | Aug 11, 2026 |
| NIPBL | 1 | Jun 12, 2026 |
| NMNAT1 | 2 | Nov 22, 2025 |
| NOD2 | 1 | Jun 29, 2026 |
| NOTCH3 | 10 | Jul 18, 2026 |
| NPC2 | 1 | May 23, 2026 |
| NPHP4 | 1 | Apr 10, 2026 |
| NPHS1 | 1 | Nov 11, 2025 |
| NPR2 | 1 | May 24, 2026 |
| NR2E3 | 3 | Dec 7, 2025 |
| NR3C2 | 3 | Apr 20, 2026 |
| OBSL1 | 2 | May 12, 2026 |
| OCA2 | 1 | Jul 6, 2026 |
| ODAD2 | 1 | May 9, 2026 |
| OPA1 | 7 | Jul 17, 2026 |
| ORC1 | 1 | May 24, 2026 |
| OTC | 2 | Apr 25, 2026 |
| OTOA | 4 | May 23, 2026 |
| OTOF | 1 | Oct 5, 2025 |
| OTOG | 2 | Mar 20, 2026 |
| OTOGL | 3 | May 12, 2026 |
| PAICS | 1 | May 23, 2026 |
| PALB2 | 30 | Aug 14, 2026 |
| PAPSS2 | 2 | May 22, 2026 |
| PAX3 | 5 | Aug 9, 2026 |
| PAX6 | 3 | Jun 27, 2026 |
| PCARE | 3 | Jun 27, 2026 |
| PCNT | 1 | Apr 20, 2026 |
| PCSK9 | 5 | Aug 9, 2026 |
| PDSS1 | 1 | Apr 4, 2026 |
| PDZD7 | 1 | Oct 31, 2025 |
| PEX1 | 1 | Apr 28, 2026 |
| PEX7 | 2 | Mar 30, 2026 |
| PFAS | 1 | Dec 26, 2025 |
| PGM1 | 1 | Apr 21, 2026 |
| PGM3 | 1 | May 18, 2026 |
| PHF3 | 1 | Apr 11, 2026 |
| PHKA1 | 1 | Jan 24, 2026 |
| PHKA2 | 4 | Jul 6, 2026 |
| PHKA2-AS1 | 1 | Jan 4, 2026 |
| PHYH | 2 | Aug 4, 2026 |
| PIBF1 | 1 | May 2, 2026 |
| PIEZO1 | 3 | Apr 25, 2026 |
| PIGL | 1 | Mar 6, 2026 |
| PIGN | 1 | Apr 27, 2026 |
| PIGW | 1 | Jun 7, 2026 |
| PIK3C2A | 1 | Apr 20, 2026 |
| PKD1 | 32 | Aug 13, 2026 |
| PKD1-AS1 | 5 | Apr 27, 2026 |
| PKD1L1 | 2 | Apr 29, 2026 |
| PKD2 | 9 | Aug 7, 2026 |
| PKHD1 | 3 | Aug 3, 2026 |
| PLEC | 1 | Apr 19, 2026 |
| PMM2 | 2 | Jun 30, 2026 |
| PMS2 | 12 | Jul 10, 2026 |
| PNPLA1 | 1 | Jul 25, 2026 |
| PNPT1 | 1 | Jan 2, 2026 |
| POLG | 6 | Jun 15, 2026 |
| POLGARF | 6 | Jun 15, 2026 |
| POLR1C | 1 | Apr 18, 2026 |
| POLR2F | 4 | Jan 20, 2026 |
| POLR3H | 1 | Apr 18, 2026 |
| POMGNT1 | 2 | May 16, 2026 |
| POU3F4 | 1 | Jan 19, 2026 |
| POU4F3 | 2 | Dec 12, 2025 |
| PPT1 | 1 | May 3, 2026 |
| PRG4 | 1 | Apr 19, 2026 |
| PROM1 | 3 | Jan 9, 2026 |
| PRPF31 | 1 | Oct 11, 2025 |
| PRPF8 | 2 | Jan 11, 2026 |
| PRPH2 | 8 | Jun 26, 2026 |
| PRRT2 | 1 | Apr 10, 2026 |
| PTEN | 12 | Aug 9, 2026 |
| PTPN11 | 2 | Feb 6, 2026 |
| PTPRQ | 5 | Jul 19, 2026 |
| PYCR1 | 1 | May 26, 2026 |
| PYGM | 5 | Jul 11, 2026 |
| RAD51C | 6 | Jun 8, 2026 |
| RAD51D | 5 | Mar 12, 2026 |
| RAD51L3-RFFL | 5 | Mar 12, 2026 |
| RANBP2 | 3 | Jan 25, 2026 |
| RAPSN | 1 | May 14, 2026 |
| RASA1 | 3 | Jun 28, 2026 |
| RBM27-POU4F3 | 2 | Dec 12, 2025 |
| RBM8A | 3 | Jul 11, 2026 |
| RECQL4 | 5 | Jul 4, 2026 |
| RHO | 7 | Aug 7, 2026 |
| RIT1 | 1 | May 29, 2026 |
| RLBP1 | 1 | Oct 7, 2025 |
| RNASEH1 | 1 | Feb 14, 2026 |
| RNU12 | 1 | May 15, 2026 |
| RNU4-2 | 1 | Aug 8, 2026 |
| RNU4ATAC | 4 | May 17, 2026 |
| RP1 | 6 | Apr 19, 2026 |
| RP1L1 | 3 | May 17, 2026 |
| RP2 | 2 | Jan 24, 2026 |
| RPE65 | 2 | Mar 3, 2026 |
| RPGR | 6 | Aug 15, 2026 |
| RPGRIP1 | 2 | Jan 11, 2026 |
| RPL36A-HNRNPH2 | 21 | Jul 31, 2026 |
| RRAGD | 1 | Nov 14, 2025 |
| RRM2B | 1 | Jul 25, 2026 |
| RS1 | 8 | Jul 26, 2026 |
| SAG | 1 | Mar 29, 2026 |
| SBDS | 1 | Apr 19, 2026 |
| SCN4A | 7 | Jul 17, 2026 |
| SCN5A | 1 | May 23, 2026 |
| SCNN1A | 1 | Nov 29, 2025 |
| SCNN1B | 1 | Nov 17, 2025 |
| SDHB | 2 | Mar 21, 2026 |
| SDR9C7 | 2 | Oct 10, 2025 |
| SERPINB7 | 1 | Nov 11, 2025 |
| SGSH | 1 | Mar 29, 2026 |
| SH2D1A | 3 | Aug 11, 2026 |
| SIRT4 | 1 | Aug 8, 2026 |
| SIX1 | 3 | Apr 13, 2026 |
| SKIC3 | 1 | May 17, 2026 |
| SLC12A3 | 29 | Aug 9, 2026 |
| SLC19A2 | 1 | Oct 12, 2025 |
| SLC26A1 | 1 | May 29, 2026 |
| SLC26A4 | 16 | Jul 27, 2026 |
| SLC26A4-AS1 | 3 | Jul 27, 2026 |
| SLC29A3 | 1 | Nov 22, 2025 |
| SLC2A9 | 1 | May 16, 2026 |
| SLC34A1 | 3 | Aug 10, 2026 |
| SLC37A4 | 4 | Jan 27, 2026 |
| SLC39A4 | 1 | Jan 12, 2026 |
| SLC4A1 | 2 | Apr 26, 2026 |
| SLC4A11 | 3 | Nov 21, 2025 |
| SLC52A3 | 1 | Oct 18, 2025 |
| SLC5A2 | 1 | Feb 13, 2026 |
| SLX4 | 1 | May 15, 2026 |
| SMARCB1 | 1 | May 5, 2026 |
| SMG9 | 1 | Apr 9, 2026 |
| SNRNP200 | 2 | Apr 5, 2026 |
| SOS1 | 1 | Mar 31, 2026 |
| SOX10 | 4 | Jan 20, 2026 |
| SPG7 | 3 | Jul 17, 2026 |
| SRD5A3 | 1 | Dec 5, 2025 |
| SSBP1 | 1 | Jan 5, 2026 |
| STK11 | 6 | Jun 7, 2026 |
| STRC | 7 | Jul 20, 2026 |
| SURF1 | 1 | Mar 8, 2026 |
| SYN3 | 2 | Jan 19, 2026 |
| SYNE4 | 1 | Jan 26, 2026 |
| TARID | 1 | Jan 2, 2026 |
| TBC1D24 | 1 | Nov 25, 2025 |
| TBCEL-TECTA | 2 | Dec 16, 2025 |
| TBX6 | 4 | Aug 10, 2026 |
| TCF12 | 5 | Aug 11, 2026 |
| TECTA | 2 | Dec 16, 2025 |
| TEK | 1 | Jan 27, 2026 |
| TGFBI | 2 | Apr 28, 2026 |
| TGM1 | 7 | Aug 10, 2026 |
| TIMP3 | 2 | Jan 19, 2026 |
| TK2 | 1 | May 9, 2026 |
| TMC1 | 4 | Jun 22, 2026 |
| TMEM204 | 1 | Nov 15, 2025 |
| TMEM216 | 1 | Dec 19, 2025 |
| TMEM218 | 1 | Aug 3, 2026 |
| TMPRSS3 | 3 | Mar 21, 2026 |
| TNXB | 1 | Apr 29, 2026 |
| TP53 | 5 | Aug 10, 2026 |
| TPP1 | 1 | Mar 15, 2026 |
| TREX1 | 1 | May 16, 2026 |
| TRMU | 1 | Jul 18, 2026 |
| TRPM1 | 1 | Jan 3, 2026 |
| TRPM1-AS1 | 1 | Jan 3, 2026 |
| TSC2 | 1 | Apr 5, 2026 |
| TSPAN1 | 2 | May 16, 2026 |
| TSPAN12 | 1 | Feb 14, 2026 |
| TSPEAR | 5 | Jun 7, 2026 |
| TSPEAR-AS1 | 1 | Mar 22, 2026 |
| TSTD3 | 1 | Mar 27, 2025 |
| TTC21B | 1 | Apr 19, 2026 |
| TTC21B-AS1 | 1 | Apr 19, 2026 |
| TUBA1A | 1 | Apr 17, 2026 |
| TUBB3 | 1 | May 23, 2026 |
| TWIST1 | 8 | Aug 11, 2026 |
| TWNK | 4 | May 31, 2026 |
| TYR | 3 | Jul 14, 2026 |
| TYRP1 | 1 | May 25, 2026 |
| UBIAD1 | 1 | Apr 13, 2026 |
| UCHL1 | 2 | Aug 6, 2026 |
| UMOD | 2 | Aug 2, 2026 |
| UNC13D | 1 | May 16, 2026 |
| USH2A | 53 | Aug 10, 2026 |
| USH2A-AS1 | 2 | Nov 11, 2025 |
| USH2A-AS2 | 3 | Feb 4, 2026 |
| USP45 | 1 | Mar 27, 2025 |
| VHL | 5 | May 26, 2026 |
| VPS13B | 7 | Jul 28, 2026 |
| WARS2 | 1 | Jun 27, 2026 |
| WARS2-AS1 | 1 | Jun 27, 2026 |
| WAS | 5 | Mar 21, 2026 |
| WDPCP | 1 | Apr 19, 2026 |
| WDR19 | 2 | Jan 19, 2026 |
| WDR72 | 2 | Feb 6, 2026 |
| WFS1 | 13 | May 18, 2026 |
| WNK4 | 1 | Jan 5, 2026 |
| WNT10A | 4 | Jul 27, 2026 |
| YAP1 | 1 | Aug 11, 2026 |
| ZDHHC24 | 1 | Dec 23, 2025 |
| ZEB1 | 1 | May 29, 2026 |
| ZNF335 | 1 | Apr 6, 2026 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Adult onset neurodegenerative disorder | 1 | Oct 3, 2025 |
| Agammaglobulinaemia with absent BTK expression | 4 | Jun 21, 2026 |
| Autoimmune lymphoproliferative syndrome with defective apoptosis | 1 | Feb 15, 2026 |
| Autoimmune polyendocrinopathy | 1 | Mar 16, 2026 |
| Autosomal recessive primary hypertrophic osteoarthropathy | 1 | Aug 13, 2026 |
| Bardet-Biedl syndrome | 2 | Feb 8, 2026 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 9 | Jul 18, 2026 |
| Common craniosynostosis syndromes | 30 | Aug 11, 2026 |
| Congenital fibrosis of extraocular muscles | 1 | May 23, 2026 |
| Corneal dystrophy | 7 | May 29, 2026 |
| Cystic renal disease | 53 | Aug 13, 2026 |
| Cystinosis | 4 | Apr 10, 2026 |
| Ectodermal dysplasia | 21 | Aug 13, 2026 |
| Fabry disease | 21 | Jul 31, 2026 |
| Familial hypercholesterolemia | 192 | Aug 10, 2026 |
| Familial rhabdoid tumours | 1 | May 5, 2026 |
| Fetal anomalies with a likely genetic cause | 173 | Aug 11, 2026 |
| Glutaric acidaemia I newborn screening follow up | 2 | Nov 28, 2025 |
| Glycogen storage disease | 28 | Aug 10, 2026 |
| Hematuria | 82 | Aug 14, 2026 |
| Hereditary diffuse gastric adenocarcinoma | 2 | Oct 5, 2025 |
| Hypochondroplasia | 1 | Nov 9, 2025 |
| Ichthyosis and erythrokeratoderma | 45 | Aug 10, 2026 |
| Inherited MMR deficiency (Lynch syndrome) | 62 | Aug 10, 2026 |
| Inherited breast cancer and ovarian cancer | 179 | Aug 14, 2026 |
| Inherited ovarian cancer (without breast cancer) | 66 | Aug 14, 2026 |
| Inherited prostate cancer | 12 | Jul 27, 2026 |
| Inherited renal cancer | 6 | Jun 27, 2026 |
| Li-Fraumeni syndrome | 5 | Aug 10, 2026 |
| Likely inborn error of metabolism | 2 | Apr 25, 2026 |
| Lymphoproliferative syndrome with absent SAP expression | 3 | Aug 11, 2026 |
| Lysosomal storage disease | 11 | Aug 10, 2026 |
| MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up | 7 | May 13, 2026 |
| Mitochondrial DNA maintenance disorder | 8 | Jul 25, 2026 |
| Monogenic hearing loss | 236 | Aug 13, 2026 |
| Mucopolysaccharidosis, MPS-I-H/S | 3 | May 29, 2026 |
| Mucopolysaccharidosis, MPS-II | 1 | Dec 16, 2025 |
| Mucopolysaccharidosis, MPS-III-A | 1 | Mar 29, 2026 |
| Multiple monogenic benign skin tumours | 20 | Aug 10, 2026 |
| Optic neuropathy | 20 | Aug 6, 2026 |
| PTEN hamartoma tumor syndrome | 11 | Aug 9, 2026 |
| Palmoplantar keratodermas | 11 | Jul 20, 2026 |
| Paroxysmal central nervous system disorders | 5 | May 25, 2026 |
| Peutz-Jeghers syndrome | 5 | Jun 7, 2026 |
| Pigmentary skin disorders | 20 | Jul 14, 2026 |
| Possible mitochondrial disorder - nuclear genes | 34 | Jul 26, 2026 |
| Rare genetic inflammatory skin disorders | 2 | Jun 29, 2026 |
| Renal tubulopathies | 72 | Aug 11, 2026 |
| Retinal disorder | 284 | Aug 15, 2026 |
| SCID with features of gamma chain deficiency | 3 | Jun 18, 2026 |
| Skeletal muscle channelopathy | 40 | Aug 4, 2026 |
| Smith-Lemli-Opitz syndrome | 1 | Jan 19, 2026 |
| Sporadic aniridia | 2 | Jun 27, 2026 |
| Structural eye disease | 15 | Aug 11, 2026 |
| Subcutaneous panniculitis T-cell lymphoma (SPTCL) | 1 | Jul 20, 2026 |
| Unexplained young onset end-stage renal disease | 3 | May 2, 2026 |
| Van der Woude syndrome | 12 | Jun 23, 2026 |
| Vascular skin disorders | 12 | Aug 13, 2026 |
| Von Hippel-Lindau syndrome | 4 | May 26, 2026 |
| Wiskott-Aldrich syndrome | 5 | Mar 21, 2026 |