Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: FAM57BEnsemblGeneIds (GRCh38): ENSG00000149926
EnsemblGeneIds (GRCh37): ENSG00000149926
OMIM: 615175, Gene2Phenotype
FAM57B is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Phenotypes
Cone-rod dystrophy 22, MIM# 619531
Chirag Patel (Genetic Health Queensland)
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
- PMID: 33077892
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Cone-rod dystrophy 22, MIM# 619531
- Maculopathy
- Tags
- OMIM
- 615175
- Clinvar variants
- Variants in FAM57B
- Penetrance
- None
- Publications
-
- PMID: 33077892
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FAM57B were changed from Cone–rod dystrophy; Maculopathy to Cone-rod dystrophy 22, MIM# 619531; Maculopathy
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag new gene name tag was added to gene: FAM57B.
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
Chirag Patel (Genetic Health Queensland)Gene: fam57b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)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