Structural eye disease
Gene: ZNF513

ZNF513 (zinc finger protein 513)
EnsemblGeneIds (GRCh38): ENSG00000163795
EnsemblGeneIds (GRCh37): ENSG00000163795
OMIM: 613598, Gene2Phenotype
ZNF513 is in 3 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 58; 613617

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 58, 613617

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Retinitis pigmentosa 58, 613617
Eye Disorders

OMIM

613598

Clinvar variants

Variants in ZNF513

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ZNF513. Mode of inheritance for gene ZNF513 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 58, 613617 for gene: ZNF513

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ZNF513 was added gene: ZNF513 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ZNF513 was set to Phenotypes for gene: ZNF513 were set to Eye Disorders

Structural eye disease Gene: ZNF513