Polymicrogyria and Schizencephaly
Gene: RAB3GAP2EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 16 panels
1 review
Lauren Akesson (Royal Melbourne Hospital)
Polymicrogyria is a well described phenotypic feature in Micro syndrome caused by variants in RAB3GAP2 and other genes.
PMID: 23420520 – at least 3 unrelated families with polymicrogyria
PMID: 20967465 - single proband with polymicrogyriaCreated: 27 May 2020, 6:54 a.m. | Last Modified: 27 May 2020, 6:54 a.m.
Panel Version: 0.73
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 2 614225
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- Phenotypes
-
- Warburg micro syndrome 2 614225
- OMIM
- 609275
- Clinvar variants
- Variants in RAB3GAP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Microcephaly
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Anophthalmia_Microphthalmia_Coloboma
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Hereditary Spastic Paraplegia - paediatric
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rab3gap2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RAB3GAP2 were changed from to Warburg micro syndrome 2 614225
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RAB3GAP2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: RAB3GAP2 was set to Unknown