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Prepair 1000+

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

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

RAB18, HGNC:14244. From OMIM; Biallelic variants cause Warburg Micro syndrome, a rare autosomal recessive syndrome characterized by ocular and neurological abnormalities and hypothalamic hypogonadism (Handley PMID:23176487). Features include microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.
At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln (refer to Bem et al. 2011 PMID:21473985).
Created: 4 Feb 2025, 4:04 a.m. | Last Modified: 4 Feb 2025, 4:04 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome 3 MIM#614222

Publications

Details

History Filter Activity

4 Feb 2025, 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).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAB18 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Warburg micro syndrome 3, 614222 (3) for gene: RAB18

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAB18 was added gene: RAB18 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB18 were set to Warburg micro syndrome 3, 614222 (3)