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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported and a mouse model.
Created: 7 Mar 2022, 8:01 a.m. | Last Modified: 7 Mar 2022, 8:01 a.m.
Panel Version: 0.11169

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, myofibrillar, 7, MIM#617114

Publications

Details

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

History Filter Activity

7 Mar 2022, 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).

7 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KY were changed from to Myopathy, myofibrillar, 7, MIM#617114

7 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KY were set to

7 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KY was added gene: KY was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KY was set to Unknown