Inherited white matter disorders

Gene: CNTNAP1

Red List (low evidence)

CNTNAP1 (contactin associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000108797
EnsemblGeneIds (GRCh37): ENSG00000108797
OMIM: 602346, Gene2Phenotype
CNTNAP1 is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:02 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cntnap1 has been classified as Red List (Low Evidence).

23 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

CNTNAP1 was added to Inherited white matter disorders panel. Sources: Literature

23 Jul 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

CNTNAP1 was created by Zornitza Stark