RP1L1

RP1 like 1
OMIM: 608581, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green RP1L1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Occult macular dystrophy, OMIM:613587 (AD)
  • Retinitis pigmentosa 88, OMIM:618826 (AR)
Tags
  • Q2_24_MOI
  • Q2_24_expert_review