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Arthrogryposis

Gene: MYH3

Green List (high evidence)

MYH3 (myosin heavy chain 3)
EnsemblGeneIds (GRCh38): ENSG00000109063
EnsemblGeneIds (GRCh37): ENSG00000109063
OMIM: 160720, Gene2Phenotype
MYH3 is in 6 panels

2 reviews

julien thevenon (CHU de Dijon)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in G2P and OMIM.
Created: 3 May 2016, 9:54 a.m.
Comment on list classification: One green review, and a confirmed DD gene for distal arthrogryposis type 2A and distal arthrogryposis type 2B.
Created: 3 May 2016, 9:54 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Expert
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, distal, type 2A, 193700
  • Arthrogryposis, distal, type 2B, 601680
  • Arthrogryposis Multiplex Congenita
OMIM
160720
Clinvar variants
Variants in MYH3
Penetrance
Complete
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.

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH3 was added to Arthrogryposispanel. Source: UKGTN MYH3 was added to Arthrogryposispanel. Source: Expert

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH3 was added to Arthrogryposispanel. Source: Expert list

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

3 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MYH3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene MYH3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

MYH3 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

MYH3 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen