Structural eye disease
Gene: PRPH2

PRPH2 (peripherin 2)
EnsemblGeneIds (GRCh38): ENSG00000112619
EnsemblGeneIds (GRCh37): ENSG00000112619
OMIM: 179605, Gene2Phenotype
PRPH2 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Retinitis punctata albescens; Macular dystrophy, patterned, 1; Leber congenital amaurosis 18; Macular dystrophy, vitelliform, 3; Choriodal dystrophy, central areolar 2 ; 136880; 169150; 608133; 608161; 613105

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Retinitis punctata albescens, 136880; Macular dystrophy, patterned, 1, 169150; Leber congenital amaurosis 18, 608133; Macular dystrophy, vitelliform, 3, 608161; Choriodal dystrophy, central areolar 2, 613105

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

Panel version: 0.48

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Retinitis punctata albescens, 136880
Leber congenital amaurosis 18, 608133
Macular dystrophy, patterned, 1, 169150
Eye Disorders
Macular dystrophy, vitelliform, 3, 608161
Choriodal dystrophy, central areolar 2, 613105

OMIM

179605

Clinvar variants

Variants in PRPH2

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 PRPH2. Mode of inheritance for gene PRPH2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis punctata albescens, 136880; Leber congenital amaurosis 18, 608133; Choriodal dystrophy, central areolar 2, 613105; Macular dystrophy, vitelliform, 3, 608161; Macular dystrophy, patterned, 1, 169150 for gene: PRPH2

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PRPH2 was added gene: PRPH2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PRPH2 was set to Phenotypes for gene: PRPH2 were set to Eye Disorders

Structural eye disease Gene: PRPH2