Congenital myopathy

Gene: KY

Amber List (moderate evidence)

KY (kyphoscoliosis peptidase)
EnsemblGeneIds (GRCh38): ENSG00000174611
EnsemblGeneIds (GRCh37): ENSG00000174611
OMIM: 605739, Gene2Phenotype
KY is in 2 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

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

Variants in this GENE are reported as part of current diagnostic practice

Helen Brittain (Genomics England Curator)

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.

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Myopathy, myofibrillar 7 OMIM:617114
Tags
to_be_confirmed_NHSE
OMIM
605739
Clinvar variants
Variants in KY
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Mar 2022, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag to_be_confirmed_NHSE tag was added to gene: KY.

17 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ky has been classified as Amber List (Moderate Evidence).

9 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Ivone Leong (Genomics England Curator)

Tag watchlist was removed from gene: KY. Tag for-review was removed from gene: KY.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to KY. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

12 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ky has been classified as Amber List (Moderate Evidence).

12 Jan 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: KY.

12 Jan 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: KY were changed from congenital myopathy to Myopathy, myofibrillar 7 OMIM:617114

12 Jan 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: KY were set to 27484770

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

KY was added to Congenital myopathypanel. Sources: UCL

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

KY was created by anna.sarkozy