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Prepair 1000+

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 10 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

RDH12 is associated with a severe blinding disorder with onset in early childhood (PMID: 31884613), with progression to legal blindness in early adulthood (18–25 years of age) (PMID: 19011012, OMIM).

PMID: 28471114: Biallelic missense variants cause LCA in 2 affected family members. Heterozygous carriers were unaffected.

PMID: 34031043/PMID: 35491887: Gain of function variants associated with monoallelic RP
Created: 6 Jan 2025, 2:37 a.m. | Last Modified: 6 Jan 2025, 2:37 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 13, MIM#612712

Publications

Details

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rdh12 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RDH12 were changed from Leber congenital amaurosis 13, 612712 (3) to Leber congenital amaurosis 13, MIM#612712

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RDH12 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Leber congenital amaurosis 13, 612712 (3) for gene: RDH12

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RDH12 was added gene: RDH12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712 (3)