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  2. Polymicrogyria and Schizencephaly
  3. RAB18
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Polymicrogyria and Schizencephaly

Gene: RAB18

Green List (high evidence)
RAB18 (RAB18, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000099246
EnsemblGeneIds (GRCh37): ENSG00000099246
OMIM: 602207, Gene2Phenotype
RAB18 is in 12 panels

1 review

Lauren Akesson (Royal Melbourne Hospital)

Green List (high evidence)

Polymicrogyria is a well described phenotypic feature in Micro syndrome, caused by RAB18 and other genes.

PMID: 21473985 – two unrelated families with polymicrogyria
PMID: 23420520 – one proband with polymicrogyria
Created: 27 May 2020, 6:45 a.m. | Last Modified: 27 May 2020, 6:45 a.m.
Panel Version: 0.73

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome 3 614222

Publications

Created: 27 May 2020, 6:45 a.m.
Last Modified: 27 May 2020, 6:45 a.m.
Panel version: 0.73

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 3, MIM# 614222
OMIM
602207
Clinvar variants
Variants in RAB18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rab18 has been classified as Green List (High Evidence).

27 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222

27 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAB18 were set to

27 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAB18 was added gene: RAB18 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: RAB18 was set to Unknown