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Arthrogryposis

Gene: MYH7

Green List (high evidence)

MYH7 (myosin heavy chain 7)
EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment on mode of inheritance: usually monoalleleic
Created: 16 Jan 2017, 12:05 p.m.
Comment on list classification: Made green after internal discussion
Created: 16 Jan 2017, 12:04 p.m.
Comment on list classification: No evidence of association with arthrogryposis
Created: 22 Dec 2016, 10:03 a.m.
Unable to find evidence of arthrogryposis although listed on the Guy's panel as an arthrogryposis gene
Created: 22 Dec 2016, 10:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Laing distal myopathy 160500

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
  • UKGTN
  • Expert list
Phenotypes
  • Laing Distal Myopathy
  • Cardiomyopathy, familial hypertrophic, 1, 192600
  • Myopathy, myosin storage, autosomal recessive 255160
  • Myopathy, myosin storage, autosomal dominant 608358
OMIM
160760
Clinvar variants
Variants in MYH7
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.

16 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for MYH7 were set to Laing Distal Myopathy; Cardiomyopathy, familial hypertrophic, 1, 192600; Myopathy, myosin storage, autosomal recessive 255160; Myopathy, myosin storage, autosomal dominant 608358

16 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for MYH7 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

16 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).

9 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

22 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

21 Dec 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MYH7 was added to Arthrogryposispanel. Source: UKGTN MYH7 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services MYH7 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen MYH7 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH7 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MYH7 was created by ellenmcdonagh