Structural eye disease
Gene: RDH12EnsemblGeneIds (GRCh38): ENSG00000139988
EnsemblGeneIds (GRCh37): ENSG00000139988
OMIM: 608830, Gene2Phenotype
RDH12 is in 8 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Yucel-Yilmaz: one family with macular coloboma, but none of the 29 families reported by Mackay has colobomaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 13; 612712
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Yucel-Yilmaz: one family with macular coloboma, but none of the 29 families reported by Mackay has colobomaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 13, 612712
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Leber congenital amaurosis 13, 612712
- Eye Disorders
- OMIM
- 608830
- Clinvar variants
- Variants in RDH12
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RDH12. Mode of inheritance for gene RDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 13, 612712 for gene: RDH12 Publications for gene RDH12 were changed from to 25148430; 22065924
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RDH12 was added gene: RDH12 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RDH12 was set to Phenotypes for gene: RDH12 were set to Eye Disorders