Inherited white matter disordersGene: CNTNAP1
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
Variants in this GENE are reported as part of current diagnostic practice
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