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Prepair 1000+

Gene: RP2

Green List (high evidence)

RP2 (RP2, ARL3 GTPase activating protein)
EnsemblGeneIds (GRCh38): ENSG00000102218
EnsemblGeneIds (GRCh37): ENSG00000102218
OMIM: 300757, Gene2Phenotype
RP2 is in 5 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

RP involves progressive retinal degeneration, symptoms include night blindness, development of tunnel vision, and slowly progressive decreased central vision.
Created: 31 Dec 2024, 5:52 a.m. | Last Modified: 31 Dec 2024, 5:52 a.m.
Panel Version: 1.984

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Retinitis pigmentosa 2, MIM #312600

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 2, MIM#312600
OMIM
300757
Clinvar variants
Variants in RP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rp2 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RP2 were changed from Retinitis pigmentosa 2, 312600 (3) to Retinitis pigmentosa 2, MIM#312600

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RP2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Retinitis pigmentosa 2, 312600 (3) for gene: RP2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RP2 was added gene: RP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3)