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Arthrogryposis

Gene: MUSK

Green List (high evidence)
MUSK (muscle associated receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000030304
EnsemblGeneIds (GRCh37): ENSG00000030304
OMIM: 601296, Gene2Phenotype
MUSK is in 4 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Not recognised on G2P. Reported in 8 individuals from 3 families with congenital myasthenic syndrome (-<1% cases of congenital myasthenia) as well as reports in fetal akinesia
Created: 4 Jan 2017, 9:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325

Publications

Created: 4 Jan 2017, 9:47 a.m.

Panel version: 1.114

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Fetal akinesia deformation sequence 208150
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325
OMIM
601296
Clinvar variants
Variants in MUSK
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.

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

4 Jan 2017, Gel status: 3

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for MUSK were set to Fetal akinesia deformation sequence 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325

4 Jan 2017, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for MUSK were set to 15496425; 19949040; 20371544; 25537362; 25612909

21 Dec 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MUSK was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen MUSK was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services MUSK was added to Arthrogryposispanel. Source: Emory Genetics Laboratory Model of inheritance for gene MUSK was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MUSK was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MUSK was created by ellenmcdonagh