Structural eye disease
Gene: RAB18
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
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
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
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