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Glaucoma (developmental)

Gene: RDH12

Red List (low evidence)
RDH12 (retinol dehydrogenase 12 (all-trans/9-cis/11-cis))
EnsemblGeneIds (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)

Red List (low evidence)

Yucel-Yilmaz: one family with macular coloboma, but none of the 29 families reported by Mackay has coloboma
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 13; 612712

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: Imported from Structural eye disease panel version 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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 coloboma
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 13, 612712

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: Imported from Structural eye disease panel version 0.48

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

RDH12 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory