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Prepair 1000+

Gene: KY

Green List (high evidence)

KY (kyphoscoliosis peptidase)
EnsemblGeneIds (GRCh38): ENSG00000174611
EnsemblGeneIds (GRCh37): ENSG00000174611
OMIM: 605739, Gene2Phenotype
KY is in 5 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Onset is early childhood with slow progression of muscle weakness
- 4 individuals from 3 unrelated consanguineous families with slowly progressive myopathy. Muscle biopsy showed myopathic changes (increased variability in fibre size) and all individuals had a homozygous mutation present in the KY gene.
Created: 3 Dec 2024, 12:42 a.m. | Last Modified: 3 Dec 2024, 12:42 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, myofibrillar, 7 (MIM#617114)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, myofibrillar, 7 (MIM#617114)
OMIM
605739
Clinvar variants
Variants in KY
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KY were changed from Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive to Myopathy, myofibrillar, 7 (MIM#617114)

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KY were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KY was added gene: KY was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive