Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: FAM57B
Phenotypes
Cone-rod dystrophy 22, MIM# 619531
4 patients with cone-rod dystrophy or maculopathy from 3 families, with LOF pathogenic variants in TLCD3B (ceramide synthase gene). Ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. Variants segregated with disease. TLCD3B showed high expression in the adult retina with higher expression in the macular than in the peripheral region. Tlcd3bKO/KO mice exhibited a significant reduction of the cone photoreceptor light responses, thinning of the outer nuclear layer, and loss of cone photoreceptors across the retina.
Sources: LiteratureCreated: 18 Mar 2021, 4:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone–rod dystrophy; Maculopathy
Publications
Phenotypes for gene: FAM57B were changed from Cone–rod dystrophy; Maculopathy to Cone-rod dystrophy 22, MIM# 619531; Maculopathy
Tag new gene name tag was added to gene: FAM57B.
Gene: fam57b has been classified as Green List (High Evidence).
Gene: fam57b has been classified as Green List (High Evidence).
gene: FAM57B was added gene: FAM57B was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: FAM57B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM57B were set to PMID: 33077892 Phenotypes for gene: FAM57B were set to Cone–rod dystrophy; Maculopathy Review for gene: FAM57B was set to GREEN