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  3. KY
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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: KY

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Onset is early childhood with slow progression of muscle weakness

PMID: 27484770; 27485408; 30591934
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.

PMID: 11136708
A mouse model showed myopathy degeneration in the presence of a mutation in KY.
Histopathology on the mutant mouse confirmed the importance of KY protein in muscle growth and function.
Sources: Other
Created: 9 May 2023, 10:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, myofibrillar, 7 (MIM#617114)

Publications

Created: 9 May 2023, 10:44 p.m.

Panel version: 0.145

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported and a mouse model. Onset in infancy described.
Created: 5 Jun 2020, 8:56 a.m. | Last Modified: 5 Jun 2020, 8:56 a.m.
Panel Version: 0.122

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, myofibrillar, 7, MIM#617114

Publications

Created: 5 Jun 2020, 8:56 a.m.
Last Modified: 5 Jun 2020, 8:56 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 0.124

Details

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

History Filter Activity

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

9 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: KY was added gene: KY was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KY were set to 27484770; 27485408; 30591934; 11136708 Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7 (MIM#617114) Review for gene: KY was set to GREEN