Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: CEP83
PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis.
PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease.
Sources: Expert ReviewCreated: 3 Jul 2021, 3:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Publications
Gene: cep83 has been classified as Green List (High Evidence).
Gene: cep83 has been classified as Green List (High Evidence).
gene: CEP83 was added gene: CEP83 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 24882706; 33938610 Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID Review for gene: CEP83 was set to GREEN