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Provincial Medical Genetics Program of British Columbia (University of British Columbia), PGMP-BC

General information

Provincial Medical Genetics Program of British Columbia, PGMP-BC
University of British Columbia
4500 Oak St., Rm. C234
Vancouver
British Columbia
Canada - V6H 3N1

Organization ID: 508471

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 143

Gene

GeneSubmissionsLast Updated
ABCA21Apr 3, 2022
ACO21May 12, 2025
AKR1D12Aug 6, 2025
ALDOB2Apr 5, 2022
ANKRD114Apr 3, 2022
ASXL31Apr 3, 2022
ATAD3A1Apr 3, 2022
ATL11Apr 3, 2022
ATP7B2Apr 5, 2022
BICD21Apr 3, 2022
BLTP11Apr 3, 2022
CBL1Apr 3, 2022
CCDC221Apr 3, 2022
CCDST2Apr 3, 2022
CEP2902Apr 5, 2022
CHD41Apr 3, 2022
CHD73Apr 3, 2022
CLTC1Jan 4, 2023
COL11A11Apr 3, 2022
COL1A21Apr 3, 2022
COL4A11Apr 3, 2022
COL4A21Apr 3, 2022
COL6A11Apr 3, 2022
CREBBP2Apr 3, 2022
CSNK2B1Apr 3, 2022
CUL31Nov 21, 2022
CYP21A22Dec 28, 2023
DYNC1H11Apr 3, 2022
ETFB1Apr 3, 2022
EXOSC32Apr 5, 2022
EYA11Apr 3, 2022
FBN11Apr 3, 2022
FBXO111Apr 3, 2022
FECH2Apr 5, 2022
FLG2Apr 3, 2022
FLNB1Apr 3, 2022
FOXP12Apr 3, 2022
GABRA11Apr 3, 2022
GJA31Apr 3, 2022
GPC31Apr 3, 2022
GPR1431Apr 3, 2022
GRIA31Apr 3, 2022
H1-41Apr 3, 2022
HCN11Apr 3, 2022
HNRNPK1Apr 3, 2022
HRAS1Apr 3, 2022
INSL61Apr 3, 2022
JAK21Apr 3, 2022
KDM6B2Apr 3, 2022
KIF1A1Apr 3, 2022
KLHL402Apr 5, 2022
KMT2A1Apr 3, 2022
KMT2D2Apr 3, 2022
KRIT11Apr 3, 2022
L1CAM1Apr 3, 2022
LAMA12Apr 5, 2022
LDLR2Apr 3, 2022
LLGL21Apr 3, 2022
LMNB11Apr 3, 2022
LOC1067808002Dec 28, 2023
LOC1215875742Apr 3, 2022
LOC1268620601Apr 3, 2022
LRRC561Apr 3, 2022
MBOAT72Apr 5, 2022
MECP21Apr 3, 2022
MED121Apr 3, 2022
MFN21Nov 11, 2022
MVP-DT1Apr 3, 2022
MYH32Apr 5, 2022
MYH61Apr 3, 2022
MYH71Apr 3, 2022
MYRF1Apr 3, 2022
NF11Apr 3, 2022
NF21Apr 3, 2022
NIPBL1Apr 3, 2022
NOTCH12Nov 4, 2022
NSD11Apr 3, 2022
NTRK12Apr 5, 2022
OFD11Apr 3, 2022
PACS11Dec 5, 2022
PHF21A1Apr 3, 2022
PIK3CD1Apr 3, 2022
PKD11Apr 3, 2022
POGZ1Apr 3, 2022
POLR2A1Apr 3, 2022
PPT11Apr 3, 2022
PQBP11Apr 3, 2022
PROS11Apr 3, 2022
PRRT21Apr 3, 2022
PRUNE11Apr 3, 2022
PTEN1Apr 3, 2022
PTPN111Apr 3, 2022
PUF601Apr 3, 2022
RAI11Apr 3, 2022
RORA1Apr 3, 2022
RORA-AS11Apr 3, 2022
SCN2A1Apr 3, 2022
SCN5A1Apr 3, 2022
SETD52Apr 3, 2022
SLC2A101Apr 3, 2022
SLC6A11Apr 3, 2022
SLC6A1-AS11Apr 3, 2022
SLC9A61Apr 3, 2022
SMAD41Apr 3, 2022
SON1Apr 3, 2022
SOS11Apr 3, 2022
SOX51Apr 3, 2022
SOX91Apr 3, 2022
STK111Feb 24, 2022
SYNGAP11Apr 3, 2022
SYNGAP1-AS11Apr 3, 2022
TCF121Apr 3, 2022
THOC21Apr 3, 2022
THRB1Apr 3, 2022
TLK22Apr 3, 2022
TRAPPC122Apr 5, 2022
TRAPPC12-AS11Apr 5, 2022
TRIO1Apr 3, 2022
TSEN541Apr 3, 2022
TTN1Apr 3, 2022
TTN-AS11Apr 3, 2022
TUBB31Apr 3, 2022
UBR12Apr 5, 2022
USP9X1Apr 3, 2022
ZC4H21Apr 3, 2022
ZIC31Apr 3, 2022
ZMYND111Apr 3, 2022

Condition

NameSubmissionsLast Updated
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia2Dec 28, 2023
8q24.3 microdeletion syndrome1Apr 3, 2022
Abnormal cardiovascular system morphology2Nov 21, 2022
Acquired polycythemia vera1Apr 3, 2022
Alkuraya-Kucinskas syndrome1Apr 3, 2022
Aortic valve disease 11Apr 3, 2022
Arterial tortuosity syndrome1Apr 3, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2Apr 5, 2022
Au-Kline syndrome1Apr 3, 2022
Bardet-Biedl syndrome 142Apr 5, 2022
Bethlem myopathy 1A1Apr 3, 2022
Blepharophimosis - intellectual disability syndrome, MKB type1Apr 3, 2022
Brain small vessel disease 1 with or without ocular anomalies1Apr 3, 2022
Brain small vessel disease 2A, autosomal dominant1Apr 3, 2022
Branchiootorenal syndrome 11Apr 3, 2022
CBL-related disorder1Apr 3, 2022
CHARGE syndrome3Apr 3, 2022
Camptomelic dysplasia1Apr 3, 2022
Cardiac-urogenital syndrome1Apr 3, 2022
Cataract 14 multiple types1Apr 3, 2022
Cerebral cavernous malformation1Apr 3, 2022
Christianson syndrome1Apr 3, 2022
Complex cortical dysplasia with other brain malformations 11Apr 3, 2022
Congenital bile acid synthesis defect 22Aug 6, 2025
Contractures, pterygia, and variable skeletal fusions syndrome 1B2Apr 5, 2022
Cornelia de Lange syndrome 11Apr 3, 2022
Costello syndrome1Apr 3, 2022
Cowden syndrome 11Apr 3, 2022
Developmental and epileptic encephalopathy, 111Apr 3, 2022
Developmental and epileptic encephalopathy, 191Apr 3, 2022
Developmental and epileptic encephalopathy, 241Apr 3, 2022
Dilated cardiomyopathy 1E1Apr 3, 2022
Dilated cardiomyopathy 1EE1Apr 3, 2022
Dilated cardiomyopathy 1G1Apr 3, 2022
Dilated cardiomyopathy 1S1Apr 3, 2022
Duchenne muscular dystrophy1Dec 18, 2020
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2Apr 5, 2022
Epilepsy with myoclonic atonic seizures1Apr 3, 2022
Harel-Yoon syndrome1Apr 3, 2022
Hereditary fructosuria2Apr 5, 2022
Hereditary insensitivity to pain with anhidrosis2Apr 5, 2022
Hereditary spastic paraplegia 301Apr 3, 2022
Hereditary spastic paraplegia 3A1Apr 3, 2022
Heterotaxy, visceral, 1, X-linked1Apr 3, 2022
Hypercholesterolemia, familial, 12Apr 3, 2022
Ichthyosis vulgaris2Apr 3, 2022
Immunodeficiency 141Apr 3, 2022
Infantile convulsions and choreoathetosis1Apr 3, 2022
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Apr 3, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Apr 3, 2022
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Apr 3, 2022
Intellectual developmental disorder with poor growth and with or without seizures or ataxia1Apr 3, 2022
Intellectual disability1Dec 5, 2022
Intellectual disability, X-linked 99, syndromic, female-restricted1Apr 3, 2022
Intellectual disability, autosomal dominant 131Apr 3, 2022
Intellectual disability, autosomal dominant 301Apr 3, 2022
Intellectual disability, autosomal dominant 51Apr 3, 2022
Intellectual disability, autosomal dominant 561Jan 4, 2023
Intellectual disability, autosomal dominant 572Apr 3, 2022
Intellectual disability, autosomal recessive 572Apr 5, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency2Apr 3, 2022
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Apr 3, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome2Apr 3, 2022
Johanson-Blizzard syndrome2Apr 5, 2022
KBG syndrome4Apr 3, 2022
Kabuki syndrome 12Apr 3, 2022
Lamb-Shaffer syndrome1Apr 3, 2022
Larsen syndrome1Apr 3, 2022
MASA syndrome1Apr 3, 2022
Marfan syndrome1Apr 3, 2022
Microcephaly 26, primary, autosomal dominant1Apr 3, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Apr 3, 2022
Multiple acyl-CoA dehydrogenase deficiency1Apr 3, 2022
Multiple system atrophy, cerebellar type1Nov 11, 2022
Myhre syndrome1Apr 3, 2022
Nemaline myopathy 82Apr 5, 2022
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities2Apr 3, 2022
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities1Apr 3, 2022
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies1Apr 3, 2022
Neurofibromatosis, type 11Apr 3, 2022
Neurofibromatosis, type 21Apr 3, 2022
Neuronal ceroid lipofuscinosis 11Apr 3, 2022
Noonan syndrome 11Apr 3, 2022
Noonan syndrome 41Apr 3, 2022
Ocular albinism, type I1Apr 3, 2022
Optic atrophy 91May 12, 2025
Orofaciodigital syndrome I1Apr 3, 2022
Osteogenesis imperfecta, perinatal lethal1Apr 3, 2022
Peutz-Jeghers syndrome1Feb 24, 2022
Poirier-Bienvenu neurodevelopmental syndrome1Apr 3, 2022
Polycystic kidney disease, adult type1Apr 3, 2022
Pontocerebellar hypoplasia type 1B2Apr 5, 2022
Pontocerebellar hypoplasia type 41Apr 3, 2022
Protoporphyria, erythropoietic, 12Apr 5, 2022
Rahman syndrome1Apr 3, 2022
Renpenning syndrome1Apr 3, 2022
Rett syndrome1Apr 3, 2022
Ritscher-Schinzel syndrome 21Apr 3, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations2Apr 3, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Apr 3, 2022
Sifrim-Hitz-Weiss syndrome1Apr 3, 2022
Simpson-Golabi-Behmel syndrome type 11Apr 3, 2022
Smith-Magenis syndrome1Apr 3, 2022
Sotos syndrome1Apr 3, 2022
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1Apr 3, 2022
Stickler syndrome type 21Apr 3, 2022
Syndromic X-linked intellectual disability 941Apr 3, 2022
TCF12-related craniosynostosis1Apr 3, 2022
Thrombophilia due to protein S deficiency, autosomal dominant1Apr 3, 2022
Thyroid hormone resistance, generalized, autosomal dominant1Apr 3, 2022
Wieacker-Wolff syndrome, female-restricted1Apr 3, 2022
Wiedemann-Steiner syndrome1Apr 3, 2022
Wilson disease2Apr 5, 2022
X-linked intellectual disability-short stature-overweight syndrome1Apr 3, 2022
ZTTK syndrome1Apr 3, 2022