Hereditary neuropathy or pain disorder

Gene: CNTNAP1

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.

Panel Version: 6.148

CNTNAP1 variants have been associated with Hypomyelinating neuropathy, congenital, 3, OMIM:618186. At least seven CNTNAP1 variants have been reported in at least four cases (PMID: 28374019; 29511323; 27668699; 27782105; 27818385).

Created: 4 Nov 2024, 11:26 a.m. | Last Modified: 4 Nov 2024, 11:26 a.m.

Panel Version: 6.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neuropathy, congenital hypomyelinating, 3, MONDO:0020766; Hypomyelinating neuropathy, congenital, 3, OMIM:618186

Publications

• 27668699
• 28374019
• 27818385
• 27782105
• 29511323

Green List (high evidence)

Multiple affected individuals. Now that R78 panel includes complex phenotypes should be green and on panel

Created: 20 Oct 2024, 9:19 a.m. | Last Modified: 20 Oct 2024, 9:19 a.m.

Panel Version: 5.19

Severe phenotyppe, multiple unrelated patients

Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
arthrogryposis; developmental dleay; peripheral neuropathy

Publications

• 28374019: 29511323: 27668699: 27782105:

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - congenital hypomyelinating neuropathy, arthrogryposis, severe dev delay

Created: 6 Dec 2019, 2:15 p.m. | Last Modified: 6 Dec 2019, 2:15 p.m.

Panel Version: 0.35

Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.

Created: 6 Dec 2019, 2:14 p.m. | Last Modified: 6 Dec 2019, 2:14 p.m.

Panel Version: 0.35

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.

Green List (high evidence)