Inherited white matter disorders
Gene: CNTNAP1
CNTNAP1 (contactin associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000108797
EnsemblGeneIds (GRCh37): ENSG00000108797
OMIM: 602346, Gene2Phenotype
CNTNAP1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000108797
EnsemblGeneIds (GRCh37): ENSG00000108797
OMIM: 602346, Gene2Phenotype
CNTNAP1 is in 9 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment 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
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hypomyelinating neuropathy, congenital, 3, OMIM:618186
- OMIM
- 602346
- Clinvar variants
- Variants in CNTNAP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 Jun 2021, Gel status: 3
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cntnap1 has been classified as Green List (High Evidence).
7 Jun 2021, Gel status: 1
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CNTNAP1 were set to 29882456
7 Jun 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, OMIM:618186
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