Retinal disorders

Gene: ZNF513

Red List (low evidence)

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

I don't know

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

Phenotypes
Recessive RP

Publications

• PMID: 20797688

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.