Arthrogryposis
Gene: KY
KY (kyphoscoliosis peptidase)
EnsemblGeneIds (GRCh38): ENSG00000174611
EnsemblGeneIds (GRCh37): ENSG00000174611
OMIM: 605739, Gene2Phenotype
KY is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000174611
EnsemblGeneIds (GRCh37): ENSG00000174611
OMIM: 605739, Gene2Phenotype
KY is in 5 panels
1 review
Chirag Patel (Genetic Health Queensland)
Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures. 4 families with 6 affected individuals, with homozygous variants in KY gene. Immunostaining showed absence of the KY protein in patient muscle, consistent with a loss of function in one family.
Sources: Expert listCreated: 23 Mar 2023, 12:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 7, OMIM #617114
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Myopathy, myofibrillar, 7, OMIM #617114
- OMIM
- 605739
- Clinvar variants
- Variants in KY
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Mar 2023, 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).
23 Mar 2023, Gel status: 3
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ky has been classified as Green List (High Evidence).
23 Mar 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: KY was added gene: KY was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KY were set to PMID: 27484770, 27485408, 30591934, 35752288 Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7, OMIM #617114 Review for gene: KY was set to GREEN