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Arthrogryposis

Gene: NALCN

Green List (high evidence)

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

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 616266
OMIM
611549
Clinvar variants
Variants in NALCN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Dec 2016, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for NALCN were set to Congenital contractures of the limbs and face, hypotonia, and developmental delay 616266

22 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for NALCN were set to 25683120

22 Dec 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for NALCN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Dec 2016, Gel status: 0

Upload gene information

Alice Gardham (Genomics England)

NALCN was added to Arthrogryposispanel. Sources: Literature

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NALCN was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NALCN was created by ellenmcdonagh