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Mendeliome

Gene: CLEC3B

Green List (high evidence)

CLEC3B (C-type lectin domain family 3 member B)
EnsemblGeneIds (GRCh38): ENSG00000163815
EnsemblGeneIds (GRCh37): ENSG00000163815
OMIM: 187520, Gene2Phenotype
CLEC3B is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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: Literature
Created: 17 Nov 2022, 1:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macular dystrophy, retinal, 4, OMIM #619977

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macular dystrophy, retinal, 4, OMIM #619977
Tags
founder
OMIM
187520
Clinvar variants
Variants in CLEC3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clec3b has been classified as Green List (High Evidence).

17 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clec3b has been classified as Green List (High Evidence).

17 Nov 2022, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: CLEC3B.

17 Nov 2022, Gel status: 1

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 Mendeliome. 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