North West Genomic Laboratory Hub
(Manchester University NHS Foundation Trust)
General information
North West Genomic Laboratory Hub
Manchester University NHS Foundation Trust
Oxford Road
Manchester
United Kingdom - M13 9WL
https://mft.nhs.uk/nwglhOrganization ID: 283808
View this laboratory in GTR
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 60
Gene
| Gene | Submissions | Last Updated |
|---|
| ABCA4 | 1 | Jan 17, 2025 |
| ABCD1 | 6 | Mar 27, 2024 |
| ACTA1 | 1 | Jan 17, 2025 |
| ADAR | 1 | Mar 27, 2024 |
| ALDH7A1 | 2 | Mar 27, 2024 |
| ALPK3 | 1 | Jan 17, 2025 |
| APOB | 1 | Mar 27, 2024 |
| CACNA1A | 1 | Mar 27, 2024 |
| CASK | 1 | Mar 27, 2024 |
| CEP85L | 1 | Oct 11, 2024 |
| CFTR | 6 | Mar 27, 2024 |
| CHD2 | 1 | Mar 27, 2024 |
| COL11A2 | 1 | Mar 27, 2024 |
| DMD | 2 | Mar 27, 2024 |
| EFEMP2 | 1 | Jan 17, 2025 |
| EIF3F | 1 | Mar 27, 2024 |
| EZH2 | 1 | Mar 27, 2024 |
| FBN1 | 1 | Oct 11, 2024 |
| GRN | 1 | Mar 27, 2024 |
| KCNH2 | 1 | Jan 17, 2025 |
| KCNQ1 | 1 | Jan 17, 2025 |
| LDLR | 1 | Mar 27, 2024 |
| LMNA | 1 | Jan 17, 2025 |
| LOC111674472 | 2 | Mar 27, 2024 |
| LOC126861898 | 1 | Oct 11, 2024 |
| LOC129931597 | 1 | Jan 17, 2025 |
| MYBPC3 | 4 | Jan 17, 2025 |
| MYH7 | 5 | Jan 17, 2025 |
| NOTCH3 | 3 | Mar 27, 2024 |
| PKP2 | 3 | Jan 17, 2025 |
| PLN | 1 | Oct 11, 2024 |
| RBM20 | 1 | Jan 17, 2025 |
| RPE65 | 1 | Jan 17, 2025 |
| RPGR | 2 | Jan 17, 2025 |
| SCN5A | 1 | Jan 17, 2025 |
| TNNI3 | 1 | Jan 17, 2025 |
| TPM1 | 2 | Jan 17, 2025 |
| TTN | 1 | Oct 11, 2024 |
| TTN-AS1 | 1 | Oct 11, 2024 |
| USH2A | 1 | Jan 17, 2025 |
| USH2A-AS1 | 1 | Jan 17, 2025 |
Condition
| Name | Submissions | Last Updated | | Actin accumulation myopathy | 1 | Jan 17, 2025 |
| Adrenoleukodystrophy | 6 | Mar 27, 2024 |
| Aicardi-Goutieres syndrome 6 | 1 | Mar 27, 2024 |
| Arrhythmogenic right ventricular dysplasia 9 | 3 | Jan 17, 2025 |
| Becker muscular dystrophy | 2 | Mar 27, 2024 |
| Brugada syndrome 1 | 1 | Jan 17, 2025 |
| Cardiomyopathy, familial hypertrophic 27 | 1 | Jan 17, 2025 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 3 | Mar 27, 2024 |
| Cutis laxa, autosomal recessive, type 1B | 1 | Jan 17, 2025 |
| Cystic fibrosis | 6 | Mar 27, 2024 |
| Developmental and epileptic encephalopathy 94 | 1 | Mar 27, 2024 |
| Developmental and epileptic encephalopathy, 42 | 1 | Mar 27, 2024 |
| Dilated cardiomyopathy 1A | 1 | Jan 17, 2025 |
| Dilated cardiomyopathy 1DD | 1 | Jan 17, 2025 |
| Dilated cardiomyopathy 1G | 1 | Oct 11, 2024 |
| Dilated cardiomyopathy 1P | 1 | Oct 11, 2024 |
| Dilated cardiomyopathy 1S | 1 | Jan 17, 2025 |
| Dilated cardiomyopathy 3B | 1 | Mar 27, 2024 |
| Duchenne muscular dystrophy | 2 | Mar 27, 2024 |
| FG syndrome 4 | 1 | Mar 27, 2024 |
| Familial hypobetalipoproteinemia 1 | 1 | Mar 27, 2024 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 | Mar 27, 2024 |
| Hereditary pancreatitis | 1 | Mar 27, 2024 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Mar 27, 2024 |
| Hypercholesterolemia, familial, 1 | 1 | Mar 27, 2024 |
| Hypertrophic cardiomyopathy 1 | 4 | Jan 17, 2025 |
| Hypertrophic cardiomyopathy 3 | 2 | Jan 17, 2025 |
| Hypertrophic cardiomyopathy 4 | 4 | Jan 17, 2025 |
| Hypertrophic cardiomyopathy 7 | 1 | Jan 17, 2025 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Mar 27, 2024 |
| Lateral meningocele syndrome | 2 | Mar 27, 2024 |
| Long QT syndrome 1 | 1 | Jan 17, 2025 |
| Long QT syndrome 2 | 1 | Jan 17, 2025 |
| Marfan syndrome | 1 | Oct 11, 2024 |
| Migraine, familial hemiplegic, 1 | 1 | Mar 27, 2024 |
| Myofibromatosis, infantile, 2 | 2 | Mar 27, 2024 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 1 | Mar 27, 2024 |
| Pyridoxine-dependent epilepsy | 2 | Mar 27, 2024 |
| Retinitis pigmentosa 20 | 1 | Jan 17, 2025 |
| Retinitis pigmentosa 3 | 2 | Jan 17, 2025 |
| Retinitis pigmentosa 39 | 1 | Jan 17, 2025 |
| Severe early-childhood-onset retinal dystrophy | 1 | Jan 17, 2025 |
| Symmetrical dyschromatosis of extremities | 1 | Mar 27, 2024 |
| Syndromic X-linked intellectual disability Najm type | 1 | Mar 27, 2024 |
| Weaver syndrome | 1 | Mar 27, 2024 |
Testing in
GTR
| Disease name | Number of tests |
|---|
| Gastrointestinal stromal tumor | 1 test |
| Neurofibromatosis, type 2 | 1 test |
| Patterned macular dystrophy 1 | 1 test |
| Retinitis pigmentosa 2 | 1 test |
| Retinitis pigmentosa 3 | 1 test |
