Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: ZNF513

Amber List (moderate evidence)

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

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