Congenital muscular dystrophy and congenital myopathy

Gene: KY

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 3:45 p.m. | Last Modified: 2 May 2024, 3:45 p.m.

Panel Version: 0.229

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Removed to_be_confirmed_NHSE tag as it has been re-reviewed by an NHSE clinician.

Created: 7 Jun 2023, 12:44 p.m. | Last Modified: 7 Jun 2023, 12:44 p.m.

Panel Version: 0.184

Green List (high evidence)

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

Green List (high evidence)

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

• 11136708
• 27485408
• 27484770
• 30591934

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.

Green List (high evidence)

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/fulltext

Created: 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

• 27484770

Mode of pathogenicity
Other