Structural eye disease
Gene: RAB18EnsemblGeneIds (GRCh38): ENSG00000099246
EnsemblGeneIds (GRCh37): ENSG00000099246
OMIM: 602207, Gene2Phenotype
RAB18 is in 9 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Bem et al. reported 5 unrelated families with Warburg Micro syndrome with microphthalmia with RAB18 variantsCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 3, 614222; Warburg Micro Syndrome
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Bem et al. reported 5 unrelated families with Warburg Micro syndrome with microphthalmia with RAB18 variantsCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 3, 614222; Warburg Micro Syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Warburg Micro Syndrome
- Warburg micro syndrome 3, 614222
- OMIM
- 602207
- Clinvar variants
- Variants in RAB18
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RAB18. Added phenotypes Warburg Micro Syndrome; Warburg micro syndrome 3, 614222 for gene: RAB18 Publications for gene RAB18 were changed from to 21473985
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RAB18 was added gene: RAB18 was added to Structural eye disease. Sources: 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; Warburg Micro Syndrome