Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Hereditary Neuropathy_CMT - isolated v1.41 CADM3 Zornitza Stark Publications for gene: CADM3 were set to PMID: 33889941
Hereditary Neuropathy_CMT - isolated v1.40 CADM3 Zornitza Stark Classified gene: CADM3 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.40 CADM3 Zornitza Stark Gene: cadm3 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.39 CADM3 Achchuthan Shanmugasundram reviewed gene: CADM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38074074; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2FF, OMIM:619519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.8 CADM3 Zornitza Stark Phenotypes for gene: CADM3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519
Hereditary Neuropathy_CMT - isolated v1.7 CADM3 Zornitza Stark reviewed gene: CADM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.1 CADM3 Sue White Marked gene: CADM3 as ready
Hereditary Neuropathy_CMT - isolated v1.1 CADM3 Sue White Gene: cadm3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v1.1 CADM3 Sue White Classified gene: CADM3 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v1.1 CADM3 Sue White Gene: cadm3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v1.0 CADM3 Teresa Zhao 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
Added comment: 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: Literature