MYH7

myosin heavy chain 7
OMIM: 160760, ClinGen, DECIPHER

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red MYH7 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Laing distal myopathy 160500
  • Myopathy, myosin storage, autosomal dominant 608358
  • Myopathy, myosin storage, autosomal recessive 255160
  • Scapuloperoneal syndrome, myopathic type 181430

Green MYH7 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ebstein anomaly

Green MYH7 in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1S, MIM# 613426
  • MONDO:0013262

Green MYH7 in Hypertrophic cardiomyopathy


Level 2: Cardiovascular disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, MIM# 192600

Green MYH7 in Incidentalome


Version 1.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1S, MIM# 613426
  • MONDO:0013262
  • Cardiomyopathy, hypertrophic, 1, MIM# 192600
  • Laing distal myopathy, MIM# 160500
  • Myopathy, myosin storage, autosomal dominant, MIM# 608358
  • Myopathy, myosin storage, autosomal recessive, MIM# 255160
Tags
  • cardiac

Green MYH7 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert list
Phenotypes
  • MYH7-related skeletal myopathy MONDO:0008050

Green MYH7 in Additional findings_Adult


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, dilated, 1S, MIM# 613426
  • Cardiomyopathy, hypertrophic, 1, MIM# 192600

Green MYH7 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Expert list
Phenotypes
  • Laing distal myopathy (MIM#160500)
  • Scapuloperoneal syndrome, myopathic type (MIM#181430)

Green MYH7 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
  • NHS GMS
Phenotypes
  • Left ventricular noncompaction 5
  • Cardiomyopathy, familial hypertrophic, 1,
  • Hypertrophic cardiomyopathy
  • Cardiomyopathy, dilated, 1S

Green MYH7 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

2 reviews 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

Green MYH7 in Incidentalome_PREGEN_DRAFT


Version 1.0

0 reviews Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green MYH7 in Fetal anomalies


Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Ebstein anomaly
  • Laing distal myopathy, MIM# 160500

Green MYH7 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
  • BabySeq Category A gene
  • BabySeq Category B gene
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, MIM# 192600
Tags
  • cardiac
  • treatable

Green MYH7 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0013262
  • Cardiomyopathy, dilated, 1S, MIM# 613426
  • Cardiomyopathy, hypertrophic, 1, MIM# 192600

Amber MYH7 in Genomic newborn screening: ICoNS


Level 2: Screening
Version 1.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Cardiomyopathy, dilated, 1S
  • Cardiomyopathy, hypertrophic, 1
  • Congenital myopathy 7A, myosin storage, autosomal dominant
  • Congenital myopathy 7B, myosin storage, autosomal recessive
  • Laing distal myopathy
  • Left ventricular noncompaction 5