Department of Medical Genetics (Sanjay Gandhi Post Graduate Institute of Medical Sciences), SGPGIMS

General information

Department of Medical Genetics, SGPGIMS
Sanjay Gandhi Post Graduate Institute of Medical Sciences
Raebareli road
Lucknow
Uttar Pradesh
India - 226014
http://sgpgi.ac.in/
Organization ID: 505943

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 146

Gene

GeneSubmissionsLast Updated
AIMP21Oct 27, 2020
ANKLE21Oct 7, 2020
ASPM1Apr 5, 2021
ATRIP2Dec 31, 2020
ATRIP-TREX12Dec 31, 2020
BBIP11May 3, 2019
BBS11Aug 7, 2019
BBS101May 11, 2019
BBS121May 7, 2019
BBS41Aug 7, 2019
CFAP4182Aug 8, 2019
CFAP418-AS11Aug 8, 2019
CHST33Dec 19, 2017
CIT2Oct 29, 2020
CLASP12Dec 29, 2020
COASY1Oct 26, 2020
COL4A11Oct 28, 2020
COL7A19Mar 4, 2021
CTSK10Oct 23, 2020
DVL31May 7, 2019
ECEL12May 11, 2019
ERCC62Dec 30, 2020
ERCC6-PGBD31Dec 30, 2020
FBXO111Jan 8, 2021
GALK11Mar 2, 2021
GAPDH1Dec 30, 2020
GLI31May 12, 2019
GLRA11Jan 2, 2018
IDS54Mar 12, 2021
ITGB41Mar 2, 2021
LGI41Oct 12, 2018
LOC10605010221Feb 24, 2021
MECP21Dec 30, 2020
MTHFR3Apr 5, 2021
NCAPD21Dec 30, 2020
NFIX2May 7, 2019
NPR25Jan 10, 2017
ORC11Oct 27, 2020
PC1Jan 2, 2018
PCNT3Oct 26, 2020
PEX71Nov 22, 2020
PGBD31Dec 30, 2020
PNPLA81Apr 5, 2021
PQBP11Dec 30, 2020
RAB3GAP11Sep 26, 2017
RNASEH2A1Oct 28, 2020
RNU4ATAC2Dec 29, 2020
ROR22May 7, 2019
SLC2A21Oct 30, 2017
SNAP291Dec 30, 2020
SPAG81Jan 10, 2017
TBX51May 1, 2019
TCF41Oct 26, 2020
TENM32Jan 5, 2018
TRAPPC91Oct 24, 2020
TREX11Dec 31, 2020
TRPS11May 11, 2019
TUBA1A1Dec 28, 2020
TYMP2Sep 29, 2017
UMOD1Nov 9, 2017
VARS12Dec 31, 2020
VIPAS391May 7, 2019
VPS33B1May 7, 2019
WDR621Oct 28, 2020
ZRANB31Sep 26, 2017

Condition

NameSubmissionsLast Updated
Abnormality of radial ray1May 1, 2019
Acromesomelic dysplasia, Maroteaux type5Jan 10, 2017
Aicardi Goutieres syndrome 11Dec 31, 2020
Aicardi Goutieres syndrome 41Oct 28, 2020
Anteverted nares1May 7, 2019
Arthrogryposis multiplex congenita 2, neurogenic type1Oct 12, 2018
Arthrogryposis, renal dysfunction, and cholestasis 11May 7, 2019
Arthrogryposis, renal dysfunction, and cholestasis 21May 7, 2019
Atrial septal defect1May 1, 2019
Babinski sign1May 12, 2019
Bardet-Biedl syndrome 11Aug 7, 2019
Bardet-Biedl syndrome 101May 11, 2019
Bardet-Biedl syndrome 121May 7, 2019
Bardet-Biedl syndrome 212Aug 8, 2019
Bardet-Biedl syndrome 41Aug 7, 2019
Basilar invagination1May 12, 2019
Blue nevus1May 1, 2019
Blue sclerae1May 7, 2019
CEDNIK syndrome1Dec 30, 2020
Clinodactyly of the 5th finger1May 7, 2019
Clubbing of fingers1May 1, 2019
Cockayne syndrome B2Dec 30, 2020
Dental crowding1May 7, 2019
Distal arthrogryposis type 5D2May 11, 2019
Distal ulnar hypoplasia1May 7, 2019
Downslanted palpebral fissures1May 3, 2019
Epidermolysis bullosa junctionalis with pyloric atresia1Mar 2, 2021
Epidermolysis bullosa pruriginosa2Mar 4, 2021
Familial juvenile hyperuricemic nephropathy type 11Nov 9, 2017
Fanconi-Bickel syndrome1Oct 30, 2017
Flat nasal alae1May 3, 2019
Genu valgum1May 7, 2019
Global developmental delay1May 7, 2019
High, narrow palate1May 7, 2019
Homocystinuria due to methylene tetrahydrofolate reductase deficiency3Apr 5, 2021
Hyperekplexia 11Jan 2, 2018
Hyperreflexia1May 12, 2019
Hypogonadotropic hypogonadism 7 with or without anosmia1May 3, 2019
Hypoplasia of the corpus callosum1May 7, 2019
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Jan 8, 2021
Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata1Nov 22, 2020
Laryngomalacia1May 7, 2019
Leukodystrophy, hypomyelinating, 171Oct 27, 2020
Lissencephaly 31Dec 28, 2020
Long fingers1May 7, 2019
Long toe1May 7, 2019
Lumbar hyperlordosis1May 7, 2019
Marshall-Smith syndrome1Jan 9, 2018
Megalocornea1May 7, 2019
Meier-Gorlin syndrome 11Oct 27, 2020
Mental retardation, autosomal recessive 131Oct 24, 2020
Microcephalic osteodysplastic primordial dwarfism type II3Oct 26, 2020
Microcephaly1Oct 28, 2020
Microcephaly 16, primary, autosomal recessive1Oct 7, 2020
Microcephaly 17, primary, autosomal recessive2Oct 29, 2020
Microcephaly 21, primary, autosomal recessive1Dec 30, 2020
Micropenis1May 3, 2019
Microphthalmia, isolated, with coloboma 92Jan 5, 2018
Midface retrusion2May 7, 2019
Mitochondrial DNA depletion syndrome 1 (MNGIE type)2Sep 29, 2017
Mitochondrial myopathy-lactic acidosis-deafness syndrome1Apr 5, 2021
Mucopolysaccharidosis, MPS-II54Mar 12, 2021
Narrow forehead1May 3, 2019
Neurodevelopmental delay1May 7, 2019
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2Dec 31, 2020
Obesity1May 3, 2019
Osteodysplastic primordial dwarfism, type 12Dec 29, 2020
Pitt-Hopkins syndrome1Oct 26, 2020
Pointed chin1May 7, 2019
Polysyndactyly of hallux1May 12, 2019
Pontocerebellar hypoplasia, type 121Oct 26, 2020
Postaxial hand polydactyly2May 12, 2019
Primary autosomal recessive microcephaly 21Oct 28, 2020
Primary autosomal recessive microcephaly 51Apr 5, 2021
Proptosis1May 7, 2019
Proximal placement of thumb1May 7, 2019
Ptosis1May 12, 2019
Pyknodysostosis10Oct 23, 2020
Pyruvate carboxylase deficiency1Jan 2, 2018
Recessive dystrophic epidermolysis bullosa7Mar 4, 2021
Renpenning syndrome 11Dec 30, 2020
Rett syndrome1Dec 30, 2020
Robinow syndrome, autosomal recessive2May 7, 2019
Rod-cone dystrophy1May 3, 2019
Round face1May 3, 2019
Seckel syndrome1Oct 27, 2020
Short finger1May 7, 2019
Short nose1May 7, 2019
Short palpebral fissure1May 12, 2019
Short stature1May 7, 2019
Short toe1May 7, 2019
Small thenar eminence1May 1, 2019
Specific learning disability1May 3, 2019
Split-hand/foot malformation 11Jun 19, 2018
Spondyloepiphyseal dysplasia with congenital joint dislocations3Dec 19, 2017
Strabismus1May 7, 2019
Tented upper lip vermilion1May 7, 2019
Thumb deformity1May 1, 2019
Trichorhinophalangeal dysplasia type I1May 11, 2019
Umbilical hernia1May 12, 2019
Warburg micro syndrome 11Sep 26, 2017
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