Hereditary neuropathyGene: CNTNAP1
Severe phenotyppe, multiple unrelated patients
Created: 10 May 2019, 1:02 p.m.
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.
Mode of inheritance for gene: CNTNAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, 618186
Source NHS GMS was added to CNTNAP1.
gene: CNTNAP1 was added gene: CNTNAP1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: CNTNAP1 was set to