Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: RP1L1

Green List (high evidence)

RP1L1 (RP1 like 1)
EnsemblGeneIds (GRCh38): ENSG00000183638
EnsemblGeneIds (GRCh37): ENSG00000183638
OMIM: 608581, Gene2Phenotype
RP1L1 is in 3 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • retinitis pigmentosa
  • Occult macular dystrophy, 613587
OMIM
608581
Clinvar variants
Variants in RP1L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RP1L1 was added gene: RP1L1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RP1L1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RP1L1 were set to 31833436; 31236346; 30025130 Phenotypes for gene: RP1L1 were set to retinitis pigmentosa; Occult macular dystrophy, 613587