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Molecular Genetics Laboratory (BC Children's and BC Women's Hospitals)

General information

Molecular Genetics Laboratory
BC Children's and BC Women's Hospitals
2J40-4500 Oak Street
Vancouver
British Columbia
Canada - V6H 3N1
http://www.genebc.ca/
Organization ID: 249401

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 297

Gene

GeneSubmissionsLast Updated
ABCB71Sep 7, 2017
ACTB2May 30, 2017
ADNP2Jan 22, 2019
AHDC13Jun 25, 2018
ALMS12May 30, 2017
ALPL1Jan 22, 2019
ANKRD115Jun 25, 2018
AP4B11May 30, 2017
AP4B1-AS11May 30, 2017
APOB1Jun 25, 2018
AR1Nov 23, 2022
ARID1B6Jan 22, 2019
ASH1L2Jan 22, 2019
ASXL11Sep 7, 2017
AUTS22Jun 25, 2018
BCOR1May 30, 2017
BRAF1Jan 22, 2019
BRPF12Jan 22, 2019
C1QTNF52Sep 7, 2017
CACNA1S1Mar 23, 2020
CASK1Jun 25, 2018
CBL1May 30, 2017
CDK132Jan 22, 2019
CFTR14Nov 23, 2022
CFTR-AS12Nov 23, 2022
CHD21May 30, 2017
CHD81May 30, 2017
CNKSR22Jun 25, 2018
CREBBP1Jul 21, 2017
CTCF1Jan 22, 2019
CTNNB13Jun 25, 2018
CWF19L12Sep 7, 2017
DDX3X4Jun 25, 2018
DMD1Nov 23, 2022
DNMT3A2Jun 25, 2018
DUSP291Sep 7, 2017
DYRK1A2Jun 25, 2018
EBF32Sep 7, 2017
EDA1Jan 22, 2019
EHMT11May 30, 2017
EP3005Jun 25, 2018
FGFR31Mar 23, 2020
FLG1Jun 25, 2018
FOXG11May 30, 2017
FOXP11May 30, 2017
GABRB31Jun 25, 2018
GATAD2B1May 30, 2017
GH-LCR2Nov 23, 2022
GJB213Nov 23, 2022
GNAS1Jan 22, 2019
GNB11Jun 25, 2018
GRIN12Jun 25, 2018
HBA21Nov 23, 2022
HBB7Nov 23, 2022
HNRNPU1May 30, 2017
HPDL2Dec 2, 2021
ITPR11Jun 25, 2018
KAT6A1Jun 25, 2018
KAT6B2Sep 7, 2017
KCNA21Jun 25, 2018
KCNB12Jun 25, 2018
KCNQ22Sep 7, 2017
KDM6A1Jun 25, 2018
KIF1A2Jun 25, 2018
KMT2D4Jun 25, 2018
KMT5B1Jun 25, 2018
LDLR1Sep 7, 2017
LOC1060990627Nov 23, 2022
LOC1068046121Nov 23, 2022
LOC1071335107Nov 23, 2022
LOC1101212695Nov 23, 2022
LOC1116744722Dec 2, 2021
LOC1116744771Mar 23, 2020
LOC1268065901Jun 25, 2018
LOC1268066592Jun 25, 2018
LOC1268622642Dec 2, 2021
LRP21Jun 25, 2018
MECP23Apr 11, 2017
MEFV15Nov 23, 2022
MEIS21Jun 25, 2018
MFRP2Sep 7, 2017
MVK3Nov 23, 2022
MYT1L1Sep 7, 2017
NALCN1May 30, 2017
NEDD4L2Jun 25, 2018
NEXMIF1Jan 22, 2019
NF11Sep 7, 2017
NKX2-11Jun 25, 2018
NOTCH313Nov 23, 2022
NR2F12Jun 25, 2018
OPA11Sep 7, 2017
PAFAH1B11Jun 25, 2018
PAK31May 30, 2017
PHF61May 30, 2017
PIK3CA1Jan 22, 2019
PIK3CD1May 30, 2017
PIK3R11Jan 22, 2019
PMP221Mar 23, 2020
POLR2A1Apr 15, 2021
PPM1D1Jan 22, 2019
PQBP11May 30, 2017
PTEN2Jan 22, 2019
PTPN112Jun 25, 2018
PURA1Sep 7, 2017
PYCR12Sep 7, 2017
RAI12Jan 22, 2019
RPS6KA32Sep 7, 2017
RYR11Jun 25, 2018
SACS1Jun 25, 2018
SCN4A2Nov 23, 2022
SCN5A35Nov 23, 2022
SCN8A2Jun 25, 2018
SETD53Sep 7, 2017
SFTA31Jun 25, 2018
SHANK31Jan 22, 2019
SKIC32Jan 22, 2019
SMARCB11May 30, 2017
SPAST2Jan 22, 2019
SRD5A21Mar 23, 2020
STAG11Jun 25, 2018
STXBP12Jan 22, 2019
SYNGAP13Jun 25, 2018
SYNGAP1-AS12Jun 25, 2018
TBCK2May 30, 2017
TBL1XR11Jun 25, 2018
TBL1XR1-AS11Jun 25, 2018
TBR11May 30, 2017
TCF41Jan 22, 2019
TNFRSF1A5Dec 2, 2021
TRIO1Jun 25, 2018
TTR12Nov 23, 2022
TUBA1A1May 30, 2017
TUBB4A1Jun 25, 2018
UBE2A1Jun 25, 2018
USP9X1May 30, 2017
VPS13B2Jun 25, 2018
WAC1May 30, 2017
WDR261Sep 7, 2017
WNT10A1Jan 22, 2019
WRN2Apr 11, 2017
ZEB21Jun 25, 2018
ZFYVE262Sep 7, 2017

Condition

NameSubmissionsLast Updated
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Mar 23, 2020
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Jan 22, 2019
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome3Jun 25, 2018
Alstrom syndrome2May 30, 2017
Amyloidogenic transthyretin amyloidosis12Nov 23, 2022
Androgen resistance syndrome1Nov 23, 2022
Autism spectrum disorder due to AUTS2 deficiency2Jun 25, 2018
Autism, susceptibility to, 181May 30, 2017
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Jun 25, 2018
Autosomal recessive cutis laxa type 2B2Sep 7, 2017
Autosomal recessive spinocerebellar ataxia 172Sep 7, 2017
Baraitser-Winter syndrome 12May 30, 2017
Blepharophimosis - intellectual disability syndrome, SBBYS type1May 30, 2017
Bohring-Opitz syndrome1Sep 7, 2017
Borjeson-Forssman-Lehmann syndrome1May 30, 2017
Bosch-Boonstra-Schaaf optic atrophy syndrome2Jun 25, 2018
Brain-lung-thyroid syndrome1Jun 25, 2018
Brugada syndrome35Nov 23, 2022
CASK-Related Disorder1Jun 25, 2018
CBL-related disorder1May 30, 2017
CFTR-related disorders6Nov 23, 2022
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Jun 25, 2018
Cardiofaciocutaneous syndrome 11Jan 22, 2019
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy13Nov 23, 2022
Charlevoix-Saguenay spastic ataxia1Jun 25, 2018
Coffin-Lowry syndrome2Sep 7, 2017
Coffin-Siris syndrome 16Jan 22, 2019
Cohen syndrome2Jun 25, 2018
Congenital contractures of the limbs and face, hypotonia, and developmental delay1May 30, 2017
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2Jan 22, 2019
Cowden syndrome 51Jan 22, 2019
Cystic fibrosis8Nov 23, 2022
DYRK1A-related intellectual disability syndrome2Jun 25, 2018
DeSanto-Shinawi syndrome due to WAC point mutation1May 30, 2017
Developmental and epileptic encephalopathy 941May 30, 2017
Developmental and epileptic encephalopathy, 261Jun 25, 2018
Developmental and epileptic encephalopathy, 321Jun 25, 2018
Developmental and epileptic encephalopathy, 41Jan 22, 2019
Developmental and epileptic encephalopathy, 431Jun 25, 2018
Developmental and epileptic encephalopathy, 71May 30, 2017
Donnai-Barrow syndrome1Jun 25, 2018
Duchenne muscular dystrophy1Nov 23, 2022
Dysmorphic features1May 30, 2017
Familial Mediterranean fever15Nov 23, 2022
GNAS-related disorder1Jan 22, 2019
Hemoglobin H disease1Nov 23, 2022
Hereditary liability to pressure palsies2Mar 23, 2020
Hereditary spastic paraplegia 152Sep 7, 2017
Hereditary spastic paraplegia 42Jan 22, 2019
Hereditary spastic paraplegia 471May 30, 2017
Hypercholesterolemia, familial, 11Sep 7, 2017
Hyperimmunoglobulin D with periodic fever3Nov 23, 2022
Hyperkalemic periodic paralysis1Nov 23, 2022
Hypomyelinating leukodystrophy 61Jun 25, 2018
Hypotonia, ataxia, and delayed development syndrome1Sep 7, 2017
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32May 30, 2017
ITPR1-associated cerebellar ataxia spectrum disorder1Jun 25, 2018
Immunodeficiency 141May 30, 2017
Intellectual developmental disorder with dysmorphic facies and ptosis1Jan 22, 2019
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Jan 22, 2019
Intellectual disability1May 30, 2017
Intellectual disability, X-linked 1024Jun 25, 2018
Intellectual disability, X-linked 301May 30, 2017
Intellectual disability, autosomal dominant 151May 30, 2017
Intellectual disability, autosomal dominant 391Sep 7, 2017
Intellectual disability, autosomal dominant 411Jun 25, 2018
Intellectual disability, autosomal dominant 421Jun 25, 2018
Intellectual disability, autosomal dominant 471Jun 25, 2018
Intellectual disability, autosomal dominant 53Jun 25, 2018
Intellectual disability, autosomal dominant 511Jun 25, 2018
Intellectual disability, autosomal dominant 522Jan 22, 2019
Intellectual disability, autosomal dominant 82Jun 25, 2018
Intellectual disability, autosomal dominant 92Jun 25, 2018
Intellectual disability, seizures, abnormal gait and distinctive facial features1Sep 7, 2017
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency3Sep 7, 2017
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Jan 22, 2019
Intellectual disability-severe speech delay-mild dysmorphism syndrome1May 30, 2017
Isolated microphthalmia 52Sep 7, 2017
KAT6B-Related Spectrum Disorders1Sep 7, 2017
KBG syndrome5Jun 25, 2018
KCNB1-related disorder1Jun 25, 2018
KCNQ2-Related Disorders1Sep 7, 2017
Kabuki syndrome 14Jun 25, 2018
Kabuki syndrome 21Jun 25, 2018
Kleefstra syndrome 11May 30, 2017
Learning difficulty1May 30, 2017
Lissencephaly due to LIS1 mutation1Jun 25, 2018
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Jun 25, 2018
Mowat-Wilson syndrome1Jun 25, 2018
Neurodevelopmental disorder3May 30, 2017
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities1Apr 15, 2021
Neurofibromatosis, type 11Sep 7, 2017
Nonsyndromic Deafness2Jul 21, 2017
Nonsyndromic genetic hearing loss3Nov 23, 2022
Noonan syndrome 12Jun 25, 2018
Ocular impairment1Sep 7, 2017
Oculofaciocardiodental syndrome1May 30, 2017
PTEN hamartoma tumor syndrome1Jan 22, 2019
PTEN-related disorder1Jun 25, 2018
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Sep 7, 2017
Paramyotonia congenita of Von Eulenburg1Apr 15, 2021
Periventricular nodular heterotopia 72Jun 25, 2018
Phelan-McDermid syndrome1Jan 22, 2019
Pitt-Hopkins syndrome1Jan 22, 2019
Renpenning syndrome1May 30, 2017
Rett syndrome3Apr 11, 2017
Rett syndrome, congenital variant1May 30, 2017
Rubinstein-Taybi syndrome due to CREBBP mutations1Jul 21, 2017
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency5Jun 25, 2018
SCN8A-related disorder1Jun 25, 2018
SCN8A-related epileptic disorder1Jun 25, 2018
SHORT syndrome1Jan 22, 2019
STXBP1-associated neurodevelopmental disorder1Sep 7, 2017
Sensorineural hearing loss disorder2Mar 23, 2020
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1May 30, 2017
Severe intellectual disability-progressive spastic diplegia syndrome3Jun 25, 2018
Smith-Magenis syndrome2Jan 22, 2019
Syndromic X-linked intellectual disability Nascimento type1Jun 25, 2018
TNF receptor-associated periodic fever syndrome (TRAPS)5Dec 2, 2021
Tall stature-intellectual disability-facial dysmorphism syndrome2Jun 25, 2018
Thanatophoric dysplasia type 11Mar 23, 2020
Tooth agenesis, selective, X-linked, 11Jan 22, 2019
Tubulinopathy1May 30, 2017
Werner syndrome2Apr 11, 2017
X-linked intellectual disability, Cantagrel type1Jan 22, 2019
X-linked recessive seizure and neurodevelopmental deficit1Sep 7, 2017
X-linked sideroblastic anemia with ataxia1Sep 7, 2017
beta Thalassemia7Nov 23, 2022
nonsyndromic sensorineural hearing loss6Apr 15, 2021
not provided10Dec 2, 2021

Testing in GTR

Disease nameNumber of tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
Achondroplasia1 test
Alpha trait thalassemia1 test
Alpha-thalassemia and related diseases1 test
Alpha-thalassemia-related diseases1 test
Amyloidogenic transthyretin amyloidosis1 test
Androgen resistance syndrome1 test
Angelman syndrome1 test
Ashkenazi Jewish disorders1 test
Azorean disease1 test
Becker muscular dystrophy1 test
Brugada syndrome1 test
Brugada syndrome 11 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
Charcot-Marie-Tooth disease, type I1 test
Charcot-Marie-Tooth disease, type IA1 test
Cystic fibrosis1 test
Dilated cardiomyopathy 3B1 test
Duchenne muscular dystrophy1 test
Early-onset generalized limb-onset dystonia1 test
Familial Mediterranean fever1 test
Fragile X syndrome1 test
Fragile X-associated tremor/ataxia syndrome1 test
Friedreich ataxia 11 test
Hb SS disease1 test
Hemochromatosis type 11 test
Hemoglobin H disease1 test
Hemoglobin H disease, nondeletional1 test
Hereditary liability to pressure palsies1 test
Huntington disease1 test
Hydrops fetalis, alpha-thalassemia-related1 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperkalemic periodic paralysis1 test
Hypochondroplasia1 test
Hypokalemic periodic paralysis1 test
Kennedy disease1 test
Muenke syndrome1 test
Myotonic dystrophy1 test
Myotonic dystrophy type 21 test
Oculopharyngeal muscular dystrophy1 test
Prader-Willi syndrome1 test
Premature ovarian failure1 test
Qualitative or quantitative defects of dystrophin1 test
Sensorineural hearing loss disorder1 test
Sickle cell-hemoglobin C disease1 test
Spinal muscular atrophy1 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 61 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Thalassemia1 test
Thanatophoric dysplasia type 11 test
Thanatophoric dysplasia, type 21 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
alpha Thalassemia1 test
beta Thalassemia1 test