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Arthrogryposis

Gene: SCN4A

Green List (high evidence)

SCN4A (sodium voltage-gated channel alpha subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000007314
EnsemblGeneIds (GRCh37): ENSG00000007314
OMIM: 603967, Gene2Phenotype
SCN4A is in 13 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert input from Emma Clement and Anna Sarkozy (Great Ormand Street Hospital) that this gene should be on the reporting panel (green). Publication provided reports biallelic variants in a cohort of 11 individuals from six unrelated kindreds with congenital myopathy: PMID: 26700687.
Created: 21 Jul 2017, 7:43 a.m.

Alice Gardham (Genomics England)

Red List (low evidence)

Mutations only reported in 2 individuals with congenital myasthenic syndrome -neither had arthrogryposis
Created: 4 Jan 2017, 12:18 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 16 614198

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Hyperkalemic periodic paralysis, type 2, 170500
OMIM
603967
Clinvar variants
Variants in SCN4A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

21 Jul 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SCN4A were set to 12766226; 20301347;26700687

21 Jul 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SCN4A were set to 12766226; 20301347;26700687

16 Jan 2017, Gel status: 1

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.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Set publications

Alice Gardham (Genomics England)

Publications for SCN4A were set to 12766226; 20301347

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SCN4A was created by ellenmcdonagh

21 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN4A was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen