Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: ZNF513

ZNF513 (zinc finger protein 513)
EnsemblGeneIds (GRCh38): ENSG00000163795
EnsemblGeneIds (GRCh37): ENSG00000163795
OMIM: 613598, Gene2Phenotype
ZNF513 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One family reported with a homozygous variant. Knockdown of Znf513 in zebrafish embryos caused abnormal retinal development with major effects on photoreceptors, including retinal thinning with photoreceptor degeneration. (PMID: 20797688)
Created: 7 Feb 2020, 10:52 a.m. | Last Modified: 7 Feb 2020, 10:52 a.m.

Panel Version: 0.11

Phenotypes
?Retinitis pigmentosa 58 MIM#613617

Publications

20797688

Created: 7 Feb 2020, 10:52 a.m.
Last Modified: 7 Feb 2020, 10:52 a.m.
Panel version: 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Royal Melbourne Hospital

Phenotypes

Retinitis pigmentosa 58, 613617

OMIM

613598

Clinvar variants

Variants in ZNF513

Penetrance

None

Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: znf513 has been classified as Amber List (Moderate Evidence).

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ZNF513 was added gene: ZNF513 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ZNF513 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF513 were set to Retinitis pigmentosa 58, 613617

Retinitis pigmentosa_Autosomal Recessive/X-linked Gene: ZNF513