Hereditary Neuropathy_CMT - isolated
Gene: CADM3
PMID:38074074 reported the identification of first alternative causative variant in CADM3 (p.Gly368Cys) in a family from black African and also observed de novo in a patient of Caucasian ancestry.Created: 18 Apr 2024, 6:41 p.m. | Last Modified: 18 Apr 2024, 6:41 p.m.
Panel Version: 1.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2FF, OMIM:619519
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519
Comment when marking as ready: Three families, but evidence not that great and missing segregation, so stays amber.Created: 8 Jun 2021, 6:17 a.m. | Last Modified: 8 Jun 2021, 6:17 a.m.
Panel Version: 0.7893
Three families reported with the same missense variant in CADM3, p.Tyr172Cys (one family de novo), with mice work to show reduced expression of the mutant protein in axons and abnormal axonal organization.
Sources: LiteratureCreated: 7 Jun 2021, 6:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease
Publications
Publications for gene: CADM3 were set to PMID: 33889941
Gene: cadm3 has been classified as Green List (High Evidence).
Phenotypes for gene: CADM3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519
Gene: cadm3 has been classified as Amber List (Moderate Evidence).
Gene: cadm3 has been classified as Amber List (Moderate Evidence).
gene: CADM3 was added gene: CADM3 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: CADM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CADM3 were set to PMID: 33889941 Phenotypes for gene: CADM3 were set to Charcot-Marie-Tooth disease Penetrance for gene: CADM3 were set to unknown Review for gene: CADM3 was set to AMBER