Arthrogryposis
Gene: NALCN

NALCN (sodium leak channel, non-selective)
EnsemblGeneIds (GRCh38): ENSG00000102452
EnsemblGeneIds (GRCh37): ENSG00000102452
OMIM: 611549, Gene2Phenotype
NALCN is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Contractures are a feature of the mono-allelic disorder associated with this gene. More than 10 unrelated families reported.
Created: 9 Mar 2022, 3:29 a.m. | Last Modified: 9 Mar 2022, 3:29 a.m.

Panel Version: 0.322

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266

Publications

25683120

Created: 9 Mar 2022, 3:29 a.m.
Last Modified: 9 Mar 2022, 3:29 a.m.
Panel version: 0.322

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266

OMIM

611549

Clinvar variants

Variants in NALCN

Penetrance

None

Publications

25683120

Panels with this gene