1. Panels
  2. Structural eye disease
  3. RP2
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Structural eye disease

Gene: RP2

Red List (low evidence)
RP2 (RP2, ARL3 GTPase activating protein)
EnsemblGeneIds (GRCh38): ENSG00000102218
EnsemblGeneIds (GRCh37): ENSG00000102218
OMIM: 300757, Gene2Phenotype
RP2 is in 3 panels

2 reviews

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

Red List (low evidence)

patil: zebrafish model with microphthalmia, otherwise only retinal cases
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Retinitis pigmentosa 2; 312600

Publications

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). patil: zebrafish model with microphthalmia, otherwise only retinal cases
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Retinitis pigmentosa 2, 312600

Publications

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

Panel version: 0.48

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 2, 312600
  • Eye Disorders
OMIM
300757
Clinvar variants
Variants in RP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RP2. Mode of inheritance for gene RP2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Retinitis pigmentosa 2, 312600 for gene: RP2 Publications for gene RP2 were changed from to 21738648

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RP2 was added gene: RP2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RP2 was set to Phenotypes for gene: RP2 were set to Eye Disorders