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  3. RAB18
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Malformations of cortical development

Gene: RAB18

Green List (high evidence)
RAB18 (RAB18, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000099246
EnsemblGeneIds (GRCh37): ENSG00000099246
OMIM: 602207, Gene2Phenotype
RAB18 is in 9 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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
Created: 1 Feb 2023, 11:35 a.m.
Last Modified: 1 Feb 2023, 11:35 a.m.
Panel version: 3.11

Ivone Leong (Genomics England Curator)

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
Created: 13 Dec 2021, 11:35 a.m.
Last Modified: 13 Dec 2021, 11:35 a.m.
Panel version: 2.116

Zornitza Stark (Australian Genomics)

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
Sources: Expert list
Created: 28 Aug 2020, 1:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome 3, MIM# 614222

Publications

Created: 28 Aug 2020, 1:49 a.m.

Panel version: 2.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Warburg micro syndrome 3, OMIM:614222
OMIM
602207
Clinvar variants
Variants in RAB18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: RAB18.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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)

13 Dec 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: RAB18.

13 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rab18 has been classified as Amber List (Moderate Evidence).

13 Dec 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

28 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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