Arthrogryposis
Gene: NALCN

NALCN (sodium leak channel, non-selective)
EnsemblGeneIds (GRCh38): ENSG00000102452
EnsemblGeneIds (GRCh37): ENSG00000102452
OMIM: 611549, Gene2Phenotype
NALCN is in 4 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

.Recognised on G2P as disease causing. all missense/in frame. Mutations reported in at least 14 unrelated patients
Created: 22 Dec 2016, 4:12 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

25683120

Created: 22 Dec 2016, 4:12 p.m.

Panel version: 1.109

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature
Expert list

Phenotypes

Congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM:616266

OMIM

611549

Clinvar variants

Variants in NALCN

Penetrance

Complete

Publications

25683120

Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NALCN were changed from Congenital contractures of the limbs and face, hypotonia, and developmental delay 616266 to Congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM:616266

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 4