1. Panels
  2. Congenital nystagmus
  3. RDH12
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital nystagmus

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants cause LCA, mono-allelic variants reported with RP.
Created: 27 Oct 2021, 3:22 a.m. | Last Modified: 27 Oct 2021, 3:22 a.m.
Panel Version: 0.100

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 13, MIM# 612712

Publications

Created: 27 Oct 2021, 3:22 a.m.
Last Modified: 27 Oct 2021, 3:22 a.m.
Panel version: 0.100

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Nystagmus is a feature of LCA
Created: 26 Oct 2021, 10:23 p.m. | Last Modified: 26 Oct 2021, 10:26 p.m.
Panel Version: 0.96

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 13 612712

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Oct 2021, 10:23 p.m.
Last Modified: 26 Oct 2021, 10:26 p.m.
Panel version: 0.96

History Filter Activity

27 Oct 2021, 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).

27 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RDH12 were set to

27 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RDH12 was added gene: RDH12 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: RDH12 was set to