Arthrogryposis
Gene: CNTNAP1

CNTNAP1 (contactin associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000108797
EnsemblGeneIds (GRCh37): ENSG00000108797
OMIM: 602346, Gene2Phenotype
CNTNAP1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple affected individuals reported; ID is part of the phenotype.
Sources: Expert list
Created: 28 Nov 2019, 7:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286

Publications

Created: 28 Nov 2019, 7:38 a.m.

Panel version: Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.71

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Victorian Clinical Genetics Services

Phenotypes

Hypomyelinating neuropathy, congenital, 3, MIM#618186
Lethal congenital contracture syndrome 7, MIM# 616286

OMIM

602346

Clinvar variants

Variants in CNTNAP1

Penetrance

None

Publications

Panels with this gene