Hereditary neuropathy or pain disorder
Gene: TCAPEnsemblGeneIds (GRCh38): ENSG00000173991
EnsemblGeneIds (GRCh37): ENSG00000173991
OMIM: 604488, Gene2Phenotype
TCAP is in 9 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy association - Muscular dystrophy insteadCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Cardiomyopathy
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:50 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
- Phenotypes
-
- Cardiomyopathy
- OMIM
- 604488
- Clinvar variants
- Variants in TCAP
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Congenital muscular dystrophy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TCAP was added gene: TCAP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TCAP was set to Phenotypes for gene: TCAP were set to Cardiomyopathy