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BabyScreen+ newborn screening

Gene: MYH9

Red List (low evidence)

MYH9 (myosin heavy chain 9)
EnsemblGeneIds (GRCh38): ENSG00000100345
EnsemblGeneIds (GRCh37): ENSG00000100345
OMIM: 160775, Gene2Phenotype
MYH9 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 17, MIM# 603622; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong, but rare cause of deafness

Severity: moderate

Age of onset: age 6 years to 40s

Non-molecular confirmatory testing:

Treatment: hearing aid.

Note also allelic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss - variable condition including without symptoms. Complex genotype-phenotype correlation

Suggest exclude because of later onset and variable disease
Created: 4 Oct 2022, 10:15 a.m. | Last Modified: 4 Oct 2022, 10:15 a.m.
Panel Version: 0.274

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Deafness, autosomal dominant 17, MIM# 603622
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
OMIM
160775
Clinvar variants
Variants in MYH9
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: myh9 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: MYH9 were changed from Macrothrombocytopenia and progressive sensorineural deafness to Deafness, autosomal dominant 17, MIM# 603622; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myh9 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: MYH9 was added gene: MYH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and progressive sensorineural deafness