Structural eye disease
Gene: PDZD7

PDZD7 (PDZ domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000186862
EnsemblGeneIds (GRCh37): ENSG00000186862
OMIM: 612971, Gene2Phenotype
PDZD7 is in 4 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
Usher syndrome, type IIC, GPR98/PDZD7 digenic; Retinal disease in Usher syndrome type IIA, modifier of; 605472; 276901

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
Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472; Retinal disease in Usher syndrome type IIA, modifier of, 276901

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

Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472
Retinal disease in Usher syndrome type IIA, modifier of, 276901
Eye Disorders

OMIM

612971

Clinvar variants

Variants in PDZD7

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 PDZD7. Mode of inheritance for gene PDZD7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472; Retinal disease in Usher syndrome type IIA, modifier of, 276901 for gene: PDZD7

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PDZD7 was added gene: PDZD7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PDZD7 was set to Phenotypes for gene: PDZD7 were set to Eye Disorders

Structural eye disease Gene: PDZD7