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Additional findings_Paediatric

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes
Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Graded as A/B and C according to gene disease association in Babyseq. Phenotypes demonstrate moderate-high penetrance with childhood onset and diseases are actionable.
Created: 25 Sep 2020, 5:36 a.m. | Last Modified: 25 Sep 2020, 5:36 a.m.
Panel Version: 0.47

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy and cardiomyopathy MIM#160760

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category C gene
  • BabySeq Category B gene
  • BabySeq Category A gene
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, OMIM:192600
  • Laing early-onset distal myopathy, MONDO:0008050
  • Left ventricular noncompaction 5, OMIM:613426
  • Cardiomyopathy, dilated, 1S, OMIM:613426
  • Hypertrophic cardiomyopathy 1, MONDO:0008647
  • Laing distal myopathy, OMIM:160500
  • Dilated cardiomyopathy 1S, MONDO:0013262
OMIM
160760
Clinvar variants
Variants in MYH7
Penetrance
None
Panels with this gene

History Filter Activity

21 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYH7 were changed from Myopathy and cardiomyopathy MIM#160760 to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262

25 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myh7 has been classified as Green List (High Evidence).

25 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYH7 were changed from Left ventricular noncompaction; Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated; Congenital fiber type disproportion; Myopathy, myosin storage; Laing distal myopathy; Scapuloperoneal syndrome, myopathic type to Myopathy and cardiomyopathy MIM#160760

25 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myh7 has been classified as Green List (High Evidence).

27 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Congenital fiber type disproportion for gene: MYH7

27 Aug 2020, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category C gene was added to MYH7. Source Expert Review Red was added to MYH7. Added phenotypes Scapuloperoneal syndrome, myopathic type for gene: MYH7 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

27 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Left ventricular noncompaction for gene: MYH7

27 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Cardiomyopathy, dilated for gene: MYH7

27 Aug 2020, Gel status: 2

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category B gene was added to MYH7. Source Expert Review Amber was added to MYH7. Added phenotypes Cardiomyopathy, familial hypertrophic for gene: MYH7 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Myopathy, myosin storage for gene: MYH7

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYH7 was added gene: MYH7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH7 were set to Laing distal myopathy