Retinal disorders
Gene: FAM57BEnsemblGeneIds (GRCh38): ENSG00000149926
EnsemblGeneIds (GRCh37): ENSG00000149926
OMIM: 615175, Gene2Phenotype
FAM57B is in 1 panel
4 reviews
Ivone Leong (Genomics England Curator)
The 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
Zornitza Stark (Australian Genomics)
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
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
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
Louise Daugherty (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Cone-rod dystrophy, MONDO:0015993
- Maculopathy
- Tags
- OMIM
- 615175
- Clinvar variants
- Variants in FAM57B
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating was removed from gene: FAM57B.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to FAM57B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fam57b has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: FAM57B.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FAM57B were changed from Cone-rod dystrophy to Cone-rod dystrophy, MONDO:0015993; Maculopathy
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: FAM57B were set to 28041643
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: FAM57B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: FAM57B.
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to FAM57B.
Created
Louise Daugherty (Genomics England Curator)FAM57B was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)FAM57B was added to Posterior segment abnormalitiespanel. Sources: Literature