Retinal disorders

Gene: CLEC3B

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:49 p.m. | Last Modified: 24 Feb 2025, 5:49 p.m.

Panel Version: 7.8

Comment on list classification: Although the same variant was identified in all five reported families from the same village, this variant recapitulated human phenotypes in mouse model. Hence, this gene can be associated with green rating in the next GMS update.

Created: 5 Oct 2024, 5:53 p.m. | Last Modified: 5 Oct 2024, 5:53 p.m.

Panel Version: 6.22

As reviewed by Dmitrijs Rots, PMID:35331648 reported the identification of the same heterozygous variant (c.539C-A/ p.Ala180Asp) in CLEC3B gene in 12 individuals from five multigenerational Japanese families from the same village presenting with maculoretinopathy.

Mice that received subretinal injections with the CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. Moreover, the optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in these mice.

This gene has been associated with relevant phenotype in OMIM (MIM #619977), but not yet in Gene2Phenotype.

Created: 5 Oct 2024, 5:46 p.m. | Last Modified: 5 Oct 2024, 5:46 p.m.

Panel Version: 6.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macular dystrophy, retinal, 4, OMIM:619977

Publications

• 35331648

Green List (high evidence)

The study described: "5 multigenerational families diagnosed with autosomal dominant maculoretinopathy were found to carry a pathogenic variant in a new gene, CLEC3B, which encodes tetranectin, a plasminogen kringle-4 binding protein. Consistent with the disease phenotypes of patients, mice that received subretinal injections with the CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. Moreover, the optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in these mice."
Sources: Literature

Created: 27 Jun 2024, 12:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macular dystrophy, retinal, 4

Publications

• PMID: 35331648