Genes in panel

Hereditary neuropathy

Gene: CNTNAP1

Red List (low evidence)

CNTNAP1 (contactin associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000108797
EnsemblGeneIds (GRCh37): ENSG00000108797
OMIM: 602346, Gene2Phenotype
CNTNAP1 is in 7 panels

3 reviews

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Severe phenotyppe, multiple unrelated patients
Created: 10 May 2019, 1:02 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
Phenotypes
  • Hypomyelinating neuropathy, congenital, 3, 618186
OMIM
602346
Clinvar variants
Variants in CNTNAP1
Penetrance
None
Panels with this gene

History Filter Activity

5 Jun 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CNTNAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal

5 Jun 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, 618186

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CNTNAP1.

29 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CNTNAP1 was added gene: CNTNAP1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: CNTNAP1 was set to