Congenital myopathy
Gene: KYRemoved the to_be_confirmed_NHSE tag because this gene has been re-reviewed by an NHSE clinician Anna Sarkozy and so should be included in the next data review. Tag added in March 2022, re-reviewed in Nov 2022, removed June 2023.Created: 7 Jun 2023, 12:38 p.m. | Last Modified: 7 Jun 2023, 12:40 p.m.
Panel Version: 4.29
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 10 Jan 2023, 10:51 a.m. | Last Modified: 10 Jan 2023, 10:51 a.m.
Panel Version: 3.12
Associated with Myopathy, myofibrillar, 7 (OMIM: 617114) in OMIM, but not associated with phenotype in Gen2Phen. At least 4 variants have been reported in unrelated cases. PMID: 30591934 demostrates segregation of KY c.415C>T (p.R139*) in the affected homozygous members of a consanguineous family, where the parents are heterozygotes and the unaffected sister is homozygous for the wild type allele. PMID 27485408 describes the spontaneously generated murine ortholog of variant Ky with postnatally developing kyphoscoliosis, the authors note the similarities between the patient and mouse muscle fibres.Created: 13 Dec 2022, 4:45 p.m. | Last Modified: 13 Dec 2022, 4:45 p.m.
Panel Version: 3.10
Comment on list classification: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.Created: 17 Mar 2022, 10:45 a.m. | Last Modified: 17 Mar 2022, 10:45 a.m.
Panel Version: 2.82
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three terminating variants reported in unrelated cases, together with a mouse model.Created: 12 Jan 2021, 4:45 p.m. | Last Modified: 12 Jan 2021, 4:45 p.m.
Panel Version: 2.17
Three families reported and a mouse model. Onset in infancy.Created: 5 Jun 2020, 9:54 a.m. | Last Modified: 5 Jun 2020, 9:54 a.m.
Panel Version: 2.5
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
Comment when marking as ready: Reviewer contacted to see if they have further cases, amber and watchlist on current evidence.Created: 7 Mar 2017, 2:53 p.m.
Comment on list classification: Only two brothers reported, supportive mouse model.Created: 7 Mar 2017, 2:53 p.m.
Two brothers reported with homozygous c405 C > A (pY135*) nonsense mutation in the KY (Kyphoscoliosis peptidase) gene encoding the KY protein. the phenotype is myopathic, with prenatal onset, progressive muscle weakness and atrophy in limbs, face and tongue, contractures and rigid spine. CK is elevated. Muscle biopsy showed Cores and absence of the mutant protein.Created: 10 Nov 2022, 3:09 p.m. | Last Modified: 10 Nov 2022, 3:09 p.m.
Panel Version: 2.93
recent reports at the WMS 2020 reported unrelated family with KY gene variants.
"Novel mutation in KY gene causes a novel congenital myopathy with early contractures" see
https://www.nmd-journal.com/article/S0960-8966(20)30298-4/fulltextCreated: 8 Dec 2020, 2:08 p.m. | Last Modified: 8 Dec 2020, 2:08 p.m.
Panel Version: 2.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
Publications
Mode of pathogenicity
Other
Tag to_be_confirmed_NHSE was removed from gene: KY.
Phenotypes for gene: KY were changed from Myopathy, myofibrillar 7 OMIM:617114 to Myopathy, myofibrillar, 7, OMIM:617114
Gene: ky has been classified as Amber List (Moderate Evidence).
Tag Q1_23_promote_green tag was added to gene: KY. Tag Q1_23_NHS_review tag was added to gene: KY.
Tag to_be_confirmed_NHSE tag was added to gene: KY.
Gene: ky has been classified as Amber List (Moderate Evidence).
Tag watchlist was removed from gene: KY. Tag for-review was removed from gene: KY.
Source Expert Review Green was added to KY. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ky has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: KY.
Phenotypes for gene: KY were changed from congenital myopathy to Myopathy, myofibrillar 7 OMIM:617114
Publications for gene: KY were set to 27484770
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
KY was added to Congenital myopathypanel. Sources: UCL
KY was created by anna.sarkozy