Cone-rod Dystrophy
Gene: FAM57BEnsemblGeneIds (GRCh38): ENSG00000149926
EnsemblGeneIds (GRCh37): ENSG00000149926
OMIM: 615175, Gene2Phenotype
FAM57B is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; 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.
Sources: Expert ReviewCreated: 18 Sep 2021, 8:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy 22, MIM# 619531; Maculopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Cone-rod dystrophy 22, MIM# 619531
- Maculopathy
- Tags
- OMIM
- 615175
- Clinvar variants
- Variants in FAM57B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fam57b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fam57b has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FAM57B was added gene: FAM57B was added to Cone-rod Dystrophy. Sources: Expert Review new gene name tags were added to gene: FAM57B. Mode of inheritance for gene: FAM57B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM57B were set to 33077892 Phenotypes for gene: FAM57B were set to Cone-rod dystrophy 22, MIM# 619531; Maculopathy Review for gene: FAM57B was set to GREEN