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Retinal disorders

Gene: RDH12

Green List (high 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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on mode of inheritance: MOI has been updated from Biallelic to BOTH monoallelic and biallelic based on PMID: 31505163, which describes both autosomal dominant and recessive retinal phenotypes.
Created: 19 Nov 2019, 10:46 a.m. | Last Modified: 19 Nov 2019, 10:46 a.m.
Panel Version: 1.228
Created: 19 Nov 2019, 10:46 a.m.
Last Modified: 19 Nov 2019, 10:46 a.m.
Panel version: 1.228

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.
Created: 2 Jun 2016, 8:05 a.m.

Panel version: 0.201

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 13
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Leber congenital amaurosis 13, 612712
  • Eye Disorders
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
OMIM
608830
Clinvar variants
Variants in RDH12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Nov 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: RDH12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Nov 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RDH12 were set to

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RDH12. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RDH12 was set to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RDH12 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RDH12 was created by ellenmcdonagh