Retinal disordersGene: ZNF513
Variant too common in SA alleles
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Inclusion on diagnostic panel based upon a single publication - with functional evidence. I am not sure whether this warrants inclusion in the panel as has not been replicated.
Created: 1 Jun 2016, 11:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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, 8:06 a.m.
Comment on list classification: One family report, with functional data, in OMIM.
Created: 23 Mar 2016, 2:24 p.m.
Source NHS GMS was added to ZNF513.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Model of inheritance for gene ZNF513 was set to BIALLELIC, autosomal or pseudoautosomal
ZNF513 was created by ellenmcdonagh
ZNF513 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green