Genes in panel
Regions in panel
Prev Next

Mendeliome

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

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID 9697692: In 6 patients with X-linked retinitis pigmentosa (RP2; 312600), Schwahn et al. (1998) identified nonsense, missense, and frameshift mutations, as well as 2 small deletions, in the RP2 gene.

PMID 8225316: Friedrich et al. (1993) found on reexamination of 7 obligate carrier females and 6 daughters of obligate carriers whose linkage relationships suggested that they carried the RP2 gene that the phenotype varied from totally normal eyes through mild retinal changes to complete loss of vision.

PMID 26143542 :In a study of 242 female carriers of X-linked RP, half of whom had RP2 or RP3, Comander et al. (2015) found that most carriers had mildly or moderately reduced visual function but rarely became legally blind.
Created: 9 May 2022, 7:56 a.m. | Last Modified: 9 May 2022, 7:56 a.m.
Panel Version: 0.13991

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

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

16 May 2022, 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).

16 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RP2 were changed from to Retinitis pigmentosa 2 MIM#312600

16 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RP2 were set to

16 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RP2 was added gene: RP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RP2 was set to Unknown