Macular Dystrophy/Stargardt Disease
Gene: CLEC3BEnsemblGeneIds (GRCh38): ENSG00000163815
EnsemblGeneIds (GRCh37): ENSG00000163815
OMIM: 187520, Gene2Phenotype
CLEC3B is in 2 panels
1 review
Chirag Patel (Genetic Health Queensland)
12 affected individuals from 5 multigenerational Japanese families in a small village in Miyazaki diagnosed with autosomal dominant maculoretinopathy. WES identified a pathogenic variant (p.Ala180Asp) in CLEC3B, which encodes tetranectin, a plasminogen kringle-4 binding protein. Variant cosegregated with the ocular phenotype.
Mice that received subretinal injections with CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. The optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in the mice.
Sources: LiteratureCreated: 17 Nov 2022, 12:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macular dystrophy, retinal, 4, OMIM #619977
Publications
- PMID: 35331648
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Macular dystrophy, retinal, 4, OMIM #619977
- Tags
- OMIM
- 187520
- Clinvar variants
- Variants in CLEC3B
- Penetrance
- None
- Publications
-
- PMID: 35331648
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clec3b has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: CLEC3B.
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: clec3b 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: CLEC3B was added gene: CLEC3B was added to Macular Dystrophy/Stargardt Disease. Sources: Literature Mode of inheritance for gene: CLEC3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLEC3B were set to PMID: 35331648 Phenotypes for gene: CLEC3B were set to Macular dystrophy, retinal, 4, OMIM #619977 Review for gene: CLEC3B was set to GREEN