Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: MYH2

Red List (low evidence)

MYH2 (myosin heavy chain 2)
EnsemblGeneIds (GRCh38): ENSG00000125414
EnsemblGeneIds (GRCh37): ENSG00000125414
OMIM: 160740, Gene2Phenotype
MYH2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Proximal myopathy and ophthalmoplegia, MIM# 605637

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong, but rare. Proximal myopathy and ophthalmoplegia is a relatively mild muscle disorder characterized by childhood onset of symptoms. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. MYPOP can show both autosomal dominant and autosomal recessive inheritance; the phenotype is similar in both forms

Severity: mild

Age of onset: childhood

Non-molecular confirmatory testing: no

Treatment: symptomatic only therefore exclude
Created: 4 Oct 2022, 7:32 a.m. | Last Modified: 4 Oct 2022, 7:32 a.m.
Panel Version: 0.274

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Proximal myopathy and ophthalmoplegia

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Proximal myopathy and ophthalmoplegia, MIM# 605637
OMIM
160740
Clinvar variants
Variants in MYH2
Penetrance
None
Panels with this gene

History Filter Activity

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myh2 has been classified as Red List (Low Evidence).

6 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia to Proximal myopathy and ophthalmoplegia, MIM# 605637

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myh2 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYH2 was added gene: MYH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia