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Hereditary neuropathy NOT PMP22 copy number

Gene: CADM3

No list

CADM3 (cell adhesion molecule 3)
EnsemblGeneIds (GRCh38): ENSG00000162706
EnsemblGeneIds (GRCh37): ENSG00000162706
OMIM: 609743, Gene2Phenotype
CADM3 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Three families reported with the same missense variant in CADM3, p.Tyr172Cys (one family de novo), with functional work in mice to show reduced expression of the mutant protein in axons and abnormal axonal organization.
Sources: Literature
Created: 12 Jun 2021, 2:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Charcot-Marie-Tooth disease
OMIM
609743
Clinvar variants
Variants in CADM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jun 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CADM3 was added gene: CADM3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: CADM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CADM3 were set to 33889941 Phenotypes for gene: CADM3 were set to Charcot-Marie-Tooth disease Review for gene: CADM3 was set to AMBER