Hereditary Neuropathy_CMT - isolated

Gene: CADM3

Green List (high evidence)

CADM3 (cell adhesion molecule 3)
EnsemblGeneIds (GRCh38): ENSG00000162706
EnsemblGeneIds (GRCh37): ENSG00000162706
OMIM: 609743, Gene2Phenotype
CADM3 is in 2 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519

Seb Lunke (Victorian Clinical Genetics Services)

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

Teresa Zhao (Victorian Clinical Genetics Services)

I don't know

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
Created: 7 Jun 2021, 6:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Charcot-Marie-Tooth disease

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519
OMIM
609743
Clinvar variants
Variants in CADM3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

19 Apr 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CADM3 were set to PMID: 33889941

19 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cadm3 has been classified as Green List (High Evidence).

18 Sep 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CADM3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519

7 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: cadm3 has been classified as Amber List (Moderate Evidence).

7 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: cadm3 has been classified as Amber List (Moderate Evidence).

7 Jun 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Teresa Zhao (Victorian Clinical Genetics Services)

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