Malformations of cortical development
Gene: RAB18
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (Definitive). There is enough evidence to support a gene-disease association. This gene should be Green at the next review.Created: 13 Dec 2021, 11:35 a.m. | Last Modified: 13 Dec 2021, 11:35 a.m.
Panel Version: 2.116
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
Sources: Expert listCreated: 28 Aug 2020, 1:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 3, MIM# 614222
Publications
Tag Q4_21_rating was removed from gene: RAB18.
Source Expert Review Green was added to RAB18. Source NHS GMS was added to RAB18. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: RAB18.
Gene: rab18 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RAB18 were changed from Warburg micro syndrome 3, MIM# 614222 to Warburg micro syndrome 3, OMIM:614222
gene: RAB18 was added gene: RAB18 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB18 were set to 21473985; 23420520 Phenotypes for gene: RAB18 were set to Warburg micro syndrome 3, MIM# 614222 Review for gene: RAB18 was set to GREEN