Inherited white matter disorders
Gene: CNTNAP1Comment on list classification: Upgraded from Red to Green - sufficient cases of white matter disease from unrelated families to warrant a Green rating.
At least 10 unrelated families reported in literature (PMIDs: 28374019; 29511323; 29882456) . Brain imaging in all affected patients shows marked brain hypomyelination/demyelination, as well as variably reduced white matter volume and cerebral atrophy.Created: 7 Jun 2021, 12:50 p.m. | Last Modified: 7 Jun 2021, 12:50 p.m.
Panel Version: 1.116
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:02 p.m.
The association between this gene and arthrogryposis is well recognised. However, please note the recent report of two unrelated individuals with compound het/hmz variants in this gene, and leukodystrophy in addition to the arthrogryposis. Consider inclusion as Amber if not Green.Created: 23 Jul 2018, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: cntnap1 has been classified as Green List (High Evidence).
Publications for gene: CNTNAP1 were set to 29882456
Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, OMIM:618186
Gene: cntnap1 has been classified as Red List (Low Evidence).
CNTNAP1 was added to Inherited white matter disorders panel. Sources: Literature
CNTNAP1 was created by Zornitza Stark