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Bruce Lefroy Centre (Murdoch Childrens Research Institute), BLC

General information

Bruce Lefroy Centre, BLC
Murdoch Childrens Research Institute
Flemington Road
Parkville
United States - 3052
https://www.mcri.edu.au/research/themes/genetics/bruce-lefroy-centre
Organization ID: 506032

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 34

Gene

GeneSubmissionsLast Updated
ACTG11Apr 22, 2020
AGO21Sep 14, 2021
BOLA32Sep 14, 2021
COL4A12Sep 14, 2021
COL4A21Apr 22, 2020
DARS22Sep 14, 2021
FH1Apr 22, 2020
FIG41Sep 14, 2021
GLS1Sep 14, 2021
GPSM21Apr 22, 2020
GRIN2B1Apr 22, 2020
LOC1268607921Sep 14, 2021
LOC1268612421Sep 14, 2021
LSS2Sep 14, 2021
NDUFV11Sep 14, 2021
NEDD4L1Apr 22, 2020
PIK3CA1Apr 22, 2020
PMPCA2Sep 14, 2021
SCN2A1Sep 14, 2021
SCN8A1Sep 14, 2021
SLC17A52Sep 14, 2021
SPTBN11Sep 14, 2021
STAG21Sep 14, 2021
TUBA1A4Apr 22, 2020
TUBB2B1Apr 22, 2020
TUBB4A1Sep 14, 2021
WDR621Apr 22, 2020

Condition

NameSubmissionsLast Updated
Autosomal recessive spinocerebellar ataxia 22Sep 14, 2021
Baraitser-winter syndrome 21Apr 22, 2020
Brain small vessel disease 1 with or without ocular anomalies2Sep 14, 2021
Charcot-Marie-Tooth disease type 4J1Sep 14, 2021
Chudley-McCullough syndrome1Apr 22, 2020
Complex cortical dysplasia with other brain malformations 71Apr 22, 2020
Developmental and epileptic encephalopathy, 111Sep 14, 2021
Developmental and epileptic encephalopathy, 131Sep 14, 2021
Developmental delay, impaired speech, and behavioral abnormalities1Sep 14, 2021
Fumarase deficiency1Apr 22, 2020
Hypomyelinating leukodystrophy 61Sep 14, 2021
Hypotrichosis 142Sep 14, 2021
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development1Sep 14, 2021
Intellectual disability, autosomal dominant 61Apr 22, 2020
Lessel-Kreienkamp syndrome1Sep 14, 2021
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2Sep 14, 2021
Lissencephaly due to TUBA1A mutation4Apr 22, 2020
Megalencephaly-capillary malformation-polymicrogyria syndrome1Apr 22, 2020
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1Apr 22, 2020
Mitochondrial complex 1 deficiency, nuclear type 41Sep 14, 2021
Mullegama-Klein-Martinez syndrome1Sep 14, 2021
Multiple mitochondrial dysfunctions syndrome 22Sep 14, 2021
Periventricular nodular heterotopia 71Apr 22, 2020
Porencephaly 21Apr 22, 2020
Sialic acid storage disease, severe infantile type2Sep 14, 2021