Retinal disorders
Gene: ZNF423EnsemblGeneIds (GRCh38): ENSG00000102935
EnsemblGeneIds (GRCh37): ENSG00000102935
OMIM: 604557, Gene2Phenotype
ZNF423 is in 15 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Eye Disorders
- OMIM
- 604557
- Clinvar variants
- Variants in ZNF423
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Tubulointerstitial kidney disease
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Neurological ciliopathies
- Fetal anomalies
- Cystic kidney disease
- Unexplained kidney failure in young people
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ZNF423. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ZNF423 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ZNF423 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)ZNF423 was created by ellenmcdonagh