Retinal disorders
Gene: FAM57BThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:43 a.m. | Last Modified: 8 Mar 2022, 10:43 a.m.
Panel Version: 2.245
Comment on list classification: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 4 May 2021, 3:43 p.m. | Last Modified: 4 May 2021, 3:43 p.m.
Panel Version: 2.185
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.Created: 15 Apr 2021, 11:03 a.m. | Last Modified: 15 Apr 2021, 11:03 a.m.
Panel Version: 2.177
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone–rod dystrophy; Maculopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
In Carss et al 2017 as one of the biallelic LOF genes - not really enough to includeCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Added new-gene-name tag, new approved HGNC gene symbol for FAM57B is TLCD3BCreated: 7 May 2019, 1:52 p.m.
Candidate IRD-associated gene from publication PMID:28041643. Gene containing _2 predicted protein-truncating alleles (High impact), including SVs that are likely to be biallelic. Genomic coordinates refer to genome build GRCh37.Created: 17 Jan 2017, 5:13 p.m.
Phenotypes
Cone-rod dystrophy
Publications
Tag Q2_21_rating was removed from gene: FAM57B.
Source Expert Review Green was added to FAM57B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: fam57b has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: FAM57B.
Phenotypes for gene: FAM57B were changed from Cone-rod dystrophy to Cone-rod dystrophy, MONDO:0015993; Maculopathy
Publications for gene: FAM57B were set to 28041643
Mode of inheritance for gene: FAM57B was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag new-gene-name tag was added to gene: FAM57B.
Source NHS GMS was added to FAM57B.
FAM57B was created by LouiseD
FAM57B was added to Posterior segment abnormalitiespanel. Sources: Literature