Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: RPGRIP1

Green List (high evidence)

RPGRIP1 (RPGR interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000092200
EnsemblGeneIds (GRCh37): ENSG00000092200
OMIM: 605446, Gene2Phenotype
RPGRIP1 is in 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 6, 613826
  • Cone-rod dystrophy 13, 608194
OMIM
605446
Clinvar variants
Variants in RPGRIP1
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: RPGRIP1 was added gene: RPGRIP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194