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BabyScreen+ newborn screening

Gene: MYO6

Green List (high evidence)

MYO6 (myosin VI)
EnsemblGeneIds (GRCh38): ENSG00000196586
EnsemblGeneIds (GRCh37): ENSG00000196586
OMIM: 600970, Gene2Phenotype
MYO6 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

For review: should we only screen for bi-allelic or both mono- and bi-allelic disease?

Panel review: screen for bi-allelic disease only.
Created: 6 Oct 2022, 2:16 a.m. | Last Modified: 2 Nov 2022, 6:05 a.m.
Panel Version: 0.721

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821

David Amor (Murdoch Children's Research Institute)

Green List (high evidence)

Gene-disease association: strong, but rare

Severity: AD:moderate - progressive post-lingual hearing loss; AR congenital severe deafness

Age of onset: AR: congenital; AD:8-10 years

Non-molecular confirmatory testing:

Treatment: AR: HA/CI early; AD: HA required in adulthood

Coding as green for AR form
Created: 4 Oct 2022, 10:33 a.m. | Last Modified: 4 Oct 2022, 10:33 a.m.
Panel Version: 0.274

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal dominant 22; Deafness, autosomal recessive 37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Deafness, autosomal recessive 37, MIM# 607821
Tags
deafness
OMIM
600970
Clinvar variants
Variants in MYO6
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deafness tag was added to gene: MYO6.

9 Nov 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: MYO6.

2 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYO6 were changed from Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821 to Deafness, autosomal recessive 37, MIM# 607821

2 Nov 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYO6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myo6 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYO6 were changed from Deafness to Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821

6 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYO6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

6 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: MYO6.

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: MYO6 was added gene: MYO6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYO6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO6 were set to Deafness