Structural eye disease
Gene: RARB
Srour et al. 2016 summarised all 13 de novo cases published so far. Monoallelic missense variants are GAIN-OF-FUNCTIONCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, syndromic 12, 615524
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Srour et al. 2016 summarised all 13 de novo cases published so far. Monoallelic missense variants are GAIN-OF-FUNCTIONCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, syndromic 12, 615524
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to RARB. Mode of pathogenicity for gene RARB was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB
gene: RARB was added gene: RARB was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RARB were set to 24859618 Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524