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  3. RP2
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Glaucoma (developmental)

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: Imported from Structural eye disease 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: Imported from Structural eye disease panel version 0.48

Details

Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
OMIM
300757
Clinvar variants
Variants in RP2
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

RP2 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory