Foundation for Research in Genetics and Endocrinology (FRIGE's Institute of Human Genetics), FRIGE - IHG

General information

Foundation for Research in Genetics and Endocrinology, FRIGE - IHG
FRIGE's Institute of Human Genetics
FRIGE House, Jodhpur Village Road,
Ahmedabad
Gujarat
India - 380015
http://www.geneticcentre.org/
Organization ID: 505565

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 337

Gene

GeneSubmissionsLast Updated
AAAS1Mar 20, 2019
ABCA123Aug 27, 2018
ABCA31Aug 14, 2020
ABCA41Feb 3, 2020
ABCD12Aug 14, 2020
ACAT11Sep 14, 2017
ACTA11Jan 19, 2017
ADAMTSL21May 17, 2018
ADCY51Jun 1, 2020
ADGRG12Jan 25, 2019
AFG3L21Jan 19, 2017
AGRN1Jun 25, 2018
ALAD1Jul 17, 2018
ALS21Dec 17, 2018
ANAPC151Jul 7, 2017
ANKRD111Jun 30, 2018
APTX1Jun 26, 2019
AR2Aug 27, 2020
ARID1A1Jun 3, 2020
ARID21Jun 30, 2018
ASL1Jun 19, 2020
ASPA1Jul 18, 2018
ASPM1Dec 12, 2019
ASS11Jul 24, 2018
ATP13A21Sep 12, 2019
ATP7A1Oct 29, 2018
ATP7B1Jul 10, 2017
B4GALT71Aug 14, 2020
BRAF1Jun 28, 2018
BRCA11Aug 1, 2017
BRCA21Feb 5, 2020
BRIP11Feb 3, 2020
BSCL21Oct 24, 2017
C19orf121Jan 28, 2019
CA81Sep 10, 2018
CACNA1A1Apr 16, 2020
CACNA1C1Jun 28, 2018
CACNA1S1Jun 28, 2018
CAPN34Dec 18, 2018
CCDC88C2May 30, 2020
CDH11Feb 5, 2020
CDK131Jun 30, 2018
CEP2901Jun 30, 2018
CFTR3Mar 30, 2020
CFTR-AS12Mar 11, 2020
CHKB1Jul 10, 2017
CHKB-CPT1B1Jul 10, 2017
CLCN72Jun 30, 2018
CNGB31Feb 5, 2020
COL1A11Jan 3, 2019
COL4A54Apr 24, 2020
COL4A61Dec 28, 2018
COL6A11Jun 28, 2018
COL6A21Jan 2, 2020
COL6A31Oct 18, 2016
COL7A11Jun 17, 2019
CUL71Jul 13, 2020
CYP21A21Aug 21, 2017
DCHS11Aug 4, 2017
DIPK1A1Mar 21, 2019
DMD6Jul 13, 2020
DMXL21Jul 4, 2020
DOK72May 24, 2018
DYNC2H13Feb 7, 2018
DYSF7Jun 10, 2020
EDA1Aug 29, 2019
ELOVL41Aug 17, 2017
ETHE12Jan 3, 2019
EXTL31Mar 21, 2019
FAM20C2Oct 24, 2017
FBN11Feb 1, 2020
FBN21May 18, 2018
FBXO71Aug 25, 2017
FGFR21Aug 26, 2019
FGFR31Sep 29, 2020
FKRP1Jul 5, 2017
FLNB1Nov 24, 2020
FLNC2Aug 27, 2019
FLNC-AS12Aug 27, 2019
G6PC12Mar 21, 2019
G6PD1Aug 14, 2020
GALC1Aug 25, 2017
GALNS10Jun 10, 2020
GATA41May 18, 2020
GBA14Jan 16, 2019
GCDH3Aug 27, 2019
GCH11Jun 20, 2019
GDAP11Jun 18, 2020
GLB17Mar 12, 2020
GM2A2Jan 26, 2017
GNE4Jul 13, 2020
GRIA41Jul 31, 2020
GRM11Mar 12, 2020
HEXA33Apr 12, 2016
HEXB1Mar 15, 2019
HGSNAT1May 3, 2017
HNRNPUL2-BSCL21Oct 24, 2017
HSPB11Dec 12, 2019
IBA571Aug 24, 2017
IFITM51Aug 27, 2019
IL2RG2May 6, 2020
KCND31Sep 12, 2019
KCNJ11Feb 3, 2020
KCNQ21Mar 11, 2020
KCTD71Jul 12, 2018
KIF2A1Apr 19, 2018
L2HGDH1Feb 3, 2020
LAMA22Sep 12, 2019
LAMB31Jun 1, 2020
LINS11Jan 19, 2017
LIPA1Feb 12, 2019
LMNA1Dec 21, 2015
LOC1027240581Jan 26, 2018
LOC10662798114Jan 16, 2019
LOC1067808001Aug 21, 2017
LOC1101215021Mar 18, 2020
LRP51Jun 20, 2019
LRTOMT1Jul 7, 2017
LTBP41May 25, 2019
LZTR11Aug 25, 2017
MAST11Aug 14, 2020
MCS+9.71Mar 18, 2020
MFSD82Jun 20, 2019
MLC11Jul 12, 2018
MLH15Mar 13, 2020
MMAA1Jan 28, 2019
MMAB1Jul 2, 2017
MORC21May 18, 2018
MSH21Jul 4, 2020
MTHFR2Oct 2, 2020
MUTYH1Feb 1, 2020
MYH91Jul 7, 2017
NARS21Jun 30, 2020
NDUFAF61Jul 6, 2017
NEXMIF1Jun 17, 2020
NF13Nov 24, 2020
NF21May 7, 2020
NIPBL1May 12, 2018
NPC22Jul 7, 2016
NPHP41Sep 25, 2020
NPHS11Jul 21, 2017
OTC1Jul 5, 2017
PACS21Nov 24, 2020
PAFAH1B12Nov 4, 2020
PANK21Jul 10, 2017
PC1Dec 21, 2015
PCARE1Jan 7, 2019
PDHA11Jan 3, 2019
PGAP11Feb 13, 2018
PHKB1Apr 6, 2020
PIGA1Dec 12, 2019
PIGG1Dec 17, 2018
PIK3CD1Jun 27, 2018
PLA2G61Dec 30, 2019
PLCE11Jun 12, 2020
PLOD11Dec 15, 2015
PLP11Aug 2, 2017
POLR2F1Nov 24, 2020
POU1F11Jun 19, 2019
PPT14May 6, 2016
PRF11Jul 13, 2018
PRKN1Feb 5, 2020
PROC1Dec 12, 2019
PRRT21Jun 17, 2020
PSEN12Sep 12, 2019
PTH1R1Jun 19, 2020
RAB27A1Sep 11, 2018
RAB9B1Aug 2, 2017
RET2Mar 18, 2020
RPE651Aug 25, 2020
RPL101Mar 12, 2020
RPL51Mar 21, 2019
RPS191Oct 26, 2018
RTEL11Jun 10, 2020
RTEL1-TNFRSF6B1Jun 10, 2020
SCN1A3Mar 27, 2018
SCN1A-AS11Jun 19, 2019
SCN2A1Jul 11, 2016
SCN9A1Jun 19, 2019
SCNN1B1Jan 31, 2018
SERAC11Jul 5, 2017
SERPINH11May 30, 2018
SH2D1A1Jul 12, 2018
SLC17A51Aug 2, 2017
SLC17A81Jun 30, 2020
SMARCA41Mar 20, 2019
SMC1A1Mar 18, 2019
SNHG311Jul 6, 2017
SOX101Nov 24, 2020
SPAST1Aug 28, 2018
SPATA221Jul 18, 2018
SPG113Dec 12, 2019
SPTB1Sep 29, 2020
SUCLG11Jun 20, 2019
SURF11Jan 10, 2019
SYNGAP11Jul 15, 2017
SYNJ11Aug 14, 2020
SZT21Jan 16, 2018
TAZ1Aug 25, 2017
TCOF12Nov 5, 2020
TGM12Aug 14, 2020
THAP11Mar 11, 2020
TMEM1381Sep 25, 2020
TMPPE1Jul 7, 2016
TNNI31Jun 30, 2018
TNXB1Jan 2, 2020
TPP19Feb 28, 2019
TRAPPC2L1May 3, 2020
TSTD31Jul 31, 2020
TTN2Aug 9, 2018
TTN-AS12Aug 9, 2018
TUBB2B2Dec 17, 2018
TUBGCP61Oct 24, 2017
TYR6Sep 12, 2019
UGT1A1Mar 4, 2019
UGT1A11Mar 4, 2019
UGT1A101Mar 4, 2019
UGT1A31Mar 4, 2019
UGT1A41Mar 4, 2019
UGT1A51Mar 4, 2019
UGT1A61Mar 4, 2019
UGT1A71Mar 4, 2019
UGT1A81Mar 4, 2019
UGT1A91Mar 4, 2019
USP451Jul 31, 2020
VPS13A1Mar 11, 2020
WAS1Mar 11, 2020
WT11Jan 4, 2019
XPA1Jan 19, 2017
XPC1Feb 4, 2016
ZSWIM61Feb 5, 2020

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 21Aug 25, 2017
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Jul 5, 2017
Achromatopsia 31Feb 5, 2020
Acute neuronopathic Gaucher's disease2Jul 17, 2018
Adrenoleukodystrophy2Aug 14, 2020
Alport syndrome 1, X-linked recessive5Apr 24, 2020
Alzheimer disease, type 32Sep 12, 2019
Amyotrophic lateral sclerosis type 21Dec 17, 2018
Androgen resistance syndrome1Aug 27, 2020
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Aug 14, 2020
Argininosuccinate lyase deficiency1Jun 19, 2020
Ataxia-oculomotor apraxia type 11Jun 26, 2019
Atelosteogenesis type III1Nov 24, 2020
Autosomal recessive congenital ichthyosis 12Aug 14, 2020
Autosomal recessive congenital ichthyosis 4A2Aug 27, 2018
Autosomal recessive congenital ichthyosis 4B1Jul 6, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2B7Jun 10, 2020
Autosomal recessive osteopetrosis 42Jun 30, 2018
Autosomal recessive pseudohypoaldosteronism type 11Jan 31, 2018
Bartter syndrome, type 2, antenatal1Feb 3, 2020
Benign familial neonatal seizures 11Mar 11, 2020
Bethlem myopathy 12Jan 2, 2020
Breast-ovarian cancer, familial 11Aug 1, 2017
Breast-ovarian cancer, familial 21Feb 5, 2020
Cardiofaciocutaneous syndrome 11Jun 28, 2018
Cardiomyopathy, familial hypertrophic, 261Sep 14, 2017
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 31Sep 10, 2018
Ceroid lipofuscinosis neuronal 29Feb 28, 2019
Charcot-Marie-Tooth disease axonal type 2F1Dec 12, 2019
Charcot-Marie-Tooth disease type 2K1Jun 18, 2020
Charcot-Marie-Tooth disease, axonal, type 2z1May 18, 2018
Charcot-Marie-Tooth disease, recessive intermediate A1Jun 18, 2020
Charcot-Marie-Tooth disease, type 4A1Jun 18, 2020
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1Feb 28, 2019
Choreoacanthocytosis1Mar 11, 2020
Chromosome 15q11.2 deletion syndrome1Nov 4, 2020
Citrullinemia type I1Jul 24, 2018
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Aug 21, 2017
Coffin-Siris syndrome 11Mar 20, 2019
Coffin-Siris syndrome 61Jun 30, 2018
Combined immunodeficiency, X-linked1May 6, 2020
Combined oxidative phosphorylation deficiency 241Jun 30, 2020
Congenital contractural arachnodactyly1May 18, 2018
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Jun 30, 2018
Congenital hydrocephalus 12May 30, 2020
Congenital muscular dystrophy, LMNA-related1Dec 21, 2015
Congenital muscular hypertrophy-cerebral syndrome1Mar 18, 2019
Congenital myopathy with excess of thin filaments1Jan 19, 2017
Cornelia de Lange syndrome 11May 12, 2018
Cortical dysplasia, complex, with other brain malformations 31Apr 19, 2018
Crigler-Najjar syndrome type 11Mar 4, 2019
Crouzon syndrome1Aug 26, 2019
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities1May 25, 2019
Cystic fibrosis3Mar 30, 2020
Deafness, autosomal dominant 251Jun 30, 2020
Deafness, autosomal dominant 711Jul 4, 2020
Deafness, autosomal recessive 631Jul 7, 2017
Deafness, autosomal recessive 941Jun 30, 2020
Deficiency of acetyl-CoA acetyltransferase1Sep 14, 2017
Developmental and epileptic encephalopathy, 661Nov 24, 2020
Diamond-Blackfan anemia 12Mar 21, 2019
Dilated cardiomyopathy 2A1Jun 30, 2018
Duchenne muscular dystrophy6Jul 13, 2020
Dyskeratosis congenita, autosomal recessive, 51Jun 10, 2020
Dyskinesia, familial, with facial myokymia1Jun 1, 2020
Early infantile epileptic encephalopathy 111Jul 11, 2016
Early infantile epileptic encephalopathy 181Jan 16, 2018
Early infantile epileptic encephalopathy 71Mar 11, 2020
Ehlers-Danlos syndrome due to tenascin-X deficiency1Jan 2, 2020
Ehlers-Danlos syndrome progeroid type1Aug 14, 2020
Ehlers-Danlos syndrome, hydroxylysine-deficient1Dec 15, 2015
Epilepsy, progressive myoclonic 31Jul 12, 2018
Epileptic encephalopathy, early infantile, 421Apr 16, 2020
Epileptic encephalopathy, early infantile, 531Aug 14, 2020
Episodic ataxia type 21Apr 16, 2020
Ethylmalonic encephalopathy2Jan 3, 2019
Exudative vitreoretinopathy 41Jun 20, 2019
Familial cancer of breast1Feb 3, 2020
Familial hemophagocytic lymphohistiocytosis 21Jul 13, 2018
Finnish congenital nephrotic syndrome1Jul 21, 2017
Frasier syndrome1Jan 4, 2019
Frontotemporal dementia1Sep 12, 2019
Fukuyama congenital muscular dystrophy1Jul 5, 2017
GM1 gangliosidosis type 22Aug 26, 2019
GNE myopathy4Jul 13, 2020
GTP cyclohydrolase I deficiency1Jun 20, 2019
Galactosylceramide beta-galactosidase deficiency1Aug 25, 2017
Gaucher's disease, type 111Jan 16, 2019
Geleophysic dysplasia 11May 17, 2018
Generalized epilepsy with febrile seizures plus, type 71Jun 19, 2019
Glucocorticoid deficiency with achalasia1Mar 20, 2019
Glutaric aciduria, type 13Aug 27, 2019
Glycogen storage disease IXb1Apr 6, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2Mar 21, 2019
Griscelli syndrome type 21Sep 11, 2018
Hereditary diffuse gastric cancer1Feb 5, 2020
Hereditary spastic paraplegia 21Aug 2, 2017
Hirschsprung disease 11Mar 18, 2020
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2Oct 2, 2020
Hypohidrotic X-linked ectodermal dysplasia1Aug 29, 2019
Hypokalemic periodic paralysis 11Jun 28, 2018
Hypospadias 1, X-linked1May 18, 2018
Ichthyosis, spastic quadriplegia, and mental retardation1Aug 17, 2017
Immunodeficiency 141Jun 27, 2018
Immunoskeletal dysplasia with neurodevelopmental abnormalities1Mar 21, 2019
Infantile GM1 gangliosidosis5Mar 12, 2020
Joubert syndrome 161Sep 25, 2020
Junctional epidermolysis bullosa gravis of Herlitz1Jun 1, 2020
Junctional epidermolysis bullosa, non-Herlitz type1Jun 1, 2020
KBG syndrome1Jun 30, 2018
Kufor-Rakeb syndrome1Sep 12, 2019
L-2-hydroxyglutaric aciduria1Feb 3, 2020
Larsen syndrome1Nov 24, 2020
Leber congenital amaurosis 191Jul 31, 2020
Leber congenital amaurosis 21Aug 25, 2020
Leigh syndrome2Jan 10, 2019
Lethal osteosclerotic bone dysplasia2Oct 24, 2017
Limb-girdle muscular dystrophy, type 2A4Dec 18, 2018
Limb-girdle muscular dystrophy, type 2J1Aug 9, 2018
Lissencephaly due to LIS1 mutation1Jun 11, 2018
Lymphoproliferative syndrome 1, X-linked1Jul 12, 2018
Lynch syndrome I1Jul 4, 2020
Lynch syndrome II5Mar 13, 2020
Lysosomal acid lipase deficiency1Feb 12, 2019
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 351Mar 12, 2020
MYH-associated polyposis1Feb 1, 2020
Marfan syndrome1Feb 1, 2020
Meckel syndrome, type 41Jun 30, 2018
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1Aug 14, 2020
Megaconial type congenital muscular dystrophy1Jul 10, 2017
Megalencephalic leukoencephalopathy with subcortical cysts 11Jul 12, 2018
Menkes kinky-hair syndrome1Oct 29, 2018
Mental retardation, X-linked 981Jun 17, 2020
Mental retardation, autosomal dominant 141Jun 3, 2020
Mental retardation, autosomal recessive 271Jan 19, 2017
Mental retardation, autosomal recessive 421Feb 13, 2018
Mental retardation, autosomal recessive 51Jul 15, 2017
Mental retardation, autosomal recessive 531Dec 17, 2018
Merosin deficient congenital muscular dystrophy2Sep 12, 2019
Metaphyseal chondrodysplasia, Jansen type1Jun 19, 2020
Microcephaly and chorioretinopathy, autosomal recessive, 11Oct 24, 2017
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1Jun 20, 2019
Mucopolysaccharidosis, MPS-III-C1May 3, 2017
Mucopolysaccharidosis, MPS-IV-A10Jun 10, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 21Dec 12, 2019
Multiple endocrine neoplasia, type 2a1Aug 21, 2017
Multiple mitochondrial dysfunctions syndrome 31Aug 24, 2017
Muscular dystrophy, limb-girdle, autosomal recessive 231Sep 12, 2019
Myasthenia, limb-girdle, familial2May 24, 2018
Myasthenic syndrome, congenital, 81Jun 25, 2018
Myofibrillar myopathy, filamin C-related1Aug 27, 2019
Myopathy, distal, 41Aug 27, 2019
Nephronophthisis 41Sep 25, 2020
Nephrotic syndrome, type 31Jun 12, 2020
Neurodegeneration with brain iron accumulation 41Jan 28, 2019
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features1Feb 5, 2020
Neurodevelopmental disorder with or without seizures and gait abnormalities1Jul 31, 2020
Neurofibromatosis, type 13Nov 24, 2020
Neurofibromatosis, type 21May 7, 2020
Neuronal ceroid lipofuscinosis 14May 6, 2016
Neuronal ceroid lipofuscinosis 72Jun 20, 2019
Niemann-Pick disease, type C22Jul 7, 2016
Noonan syndrome 101Aug 25, 2017
Oculocutaneous albinism type 1B2Sep 12, 2019
Ornithine carbamoyltransferase deficiency1Jul 5, 2017
Osteogenesis imperfecta type 101May 30, 2018
Osteogenesis imperfecta type 51Aug 27, 2019
Osteogenesis imperfecta type I1Jan 3, 2019
Parkinson disease 141Dec 30, 2019
Parkinson disease 151Aug 25, 2017
Parkinson disease 21Feb 5, 2020
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease1Nov 24, 2020
Pigmentary pallidal degeneration1Jul 10, 2017
Pituitary hormone deficiency, combined, 11Jun 19, 2019
Polymicrogyria, asymmetric2Dec 17, 2018
Polymicrogyria, bilateral frontoparietal2Jan 25, 2019
Porphobilinogen synthase deficiency1Jul 17, 2018
Primary autosomal recessive microcephaly 51Dec 12, 2019
Pyruvate carboxylase deficiency1Dec 21, 2015
Pyruvate dehydrogenase E1-alpha deficiency1Jan 3, 2019
Recessive dystrophic epidermolysis bullosa1Jun 17, 2019
Renal cysts and diabetes syndrome1May 18, 2020
Retinitis pigmentosa 201Aug 25, 2020
Retinitis pigmentosa 541Jan 7, 2019
Salla disease1Aug 2, 2017
Sandhoff disease1Mar 15, 2019
Seizures, benign familial infantile, 21Jun 17, 2020
Severe myoclonic epilepsy in infancy3Mar 27, 2018
Short-rib thoracic dysplasia 3 with or without polydactyly3Feb 7, 2018
Spastic ataxia 5, autosomal recessive1Jan 19, 2017
Spastic paraplegia 11, autosomal recessive3Dec 12, 2019
Spastic paraplegia 171Oct 24, 2017
Spastic paraplegia 4, autosomal dominant1Aug 28, 2018
Spherocytosis type 21Sep 29, 2020
Spinocerebellar ataxia type 19/221Sep 12, 2019
Spinocerebellar ataxia, autosomal recessive 131Mar 12, 2020
Spongy degeneration of central nervous system1Jul 18, 2018
Stargardt disease 12Feb 5, 2020
Subacute neuronopathic Gaucher's disease1Jan 23, 2017
Surfactant metabolism dysfunction, pulmonary, 31Aug 14, 2020
Tay-Sachs disease33Apr 12, 2016
Tay-Sachs disease, variant AB2Jan 26, 2017
Thanatophoric dysplasia type 11Sep 29, 2020
Thanatophoric dysplasia, type 21Sep 29, 2020
Three M syndrome 11Jul 13, 2020
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive1Dec 12, 2019
Tibial muscular dystrophy1May 18, 2018
Timothy syndrome1Jun 28, 2018
Torsion dystonia 61Mar 11, 2020
Treacher Collins syndrome 12Nov 5, 2020
Tyrosinase-negative oculocutaneous albinism6Sep 12, 2019
Ullrich congenital muscular dystrophy 12Jan 2, 2020
Van Maldergem syndrome 11Aug 4, 2017
Vitamin B12-responsive methylmalonic acidemia type cblA1Jan 28, 2019
Vitamin B12-responsive methylmalonic acidemia type cblB1Jul 2, 2017
Waardenburg syndrome type 2E1Nov 24, 2020
Wilson disease1Jul 10, 2017
X-linked severe combined immunodeficiency1Jul 7, 2016
X-linked thrombocytopenia with normal platelets1Mar 11, 2020
Xeroderma pigmentosum group A2Jan 19, 2017
Support Center