Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: RP1

RP1 (RP1, axonemal microtubule associated)
EnsemblGeneIds (GRCh38): ENSG00000104237
EnsemblGeneIds (GRCh37): ENSG00000104237
OMIM: 603937, Gene2Phenotype
RP1 is in 3 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

RPI refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting. Retinitis pigmentosa-1 (RP1) is caused by homozygous, or compound heterozygous mutation in the ORP1 gene (RP1).
Created: 12 May 2022, 7:49 a.m. | Last Modified: 12 May 2022, 7:49 a.m.

Panel Version: 0.124

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 1 MIM#180100

Publications

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

Created: 12 May 2022, 7:49 a.m.
Last Modified: 12 May 2022, 7:49 a.m.
Panel version: 0.124

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Retinitis pigmentosa 1, 180100

OMIM

603937

Clinvar variants

Variants in RP1

Penetrance

None

Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RP1 was added gene: RP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RP1 were set to Retinitis pigmentosa 1, 180100

Retinitis pigmentosa_Autosomal Recessive/X-linked Gene: RP1