Activity

Filter

Cancel
Date Panel Item Activity
35 actions
Congenital myopathy v4.29 KY Eleanor Williams changed review comment from: Removed the to_be_confirmed_NHSE tag because this gene has been re-reviewed by an NHSE clinician Anna Sarkozy. Tag added in March 2022, re-reviewed in Nov 2022, removed June 2023.; to: Removed 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.
Congenital myopathy v4.29 KY Eleanor Williams changed review comment from: Removed the to_be_confirmed_NHSE tag because this gene has been re-reviewed by an NHSE clinician.; to: Removed the to_be_confirmed_NHSE tag because this gene has been re-reviewed by an NHSE clinician Anna Sarkozy. Tag added in March 2022, re-reviewed in Nov 2022, removed June 2023.
Congenital myopathy v4.29 KY Eleanor Williams commented on gene: KY
Congenital myopathy v4.29 KY Eleanor Williams Tag to_be_confirmed_NHSE was removed from gene: KY.
Congenital myopathy v3.53 KY Arina Puzriakova Phenotypes for gene: KY were changed from Myopathy, myofibrillar 7 OMIM:617114 to Myopathy, myofibrillar, 7, OMIM:617114
Congenital myopathy v3.40 FKBP14 Arina Puzriakova Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557 to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Congenital myopathy v3.12 KY Sarah Leigh Classified gene: KY as Amber List (moderate evidence)
Congenital myopathy v3.12 KY Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital myopathy v3.12 KY Sarah Leigh Gene: ky has been classified as Amber List (Moderate Evidence).
Congenital myopathy v3.11 KY Sarah Leigh Tag Q1_23_promote_green tag was added to gene: KY.
Tag Q1_23_NHS_review tag was added to gene: KY.
Congenital myopathy v3.10 KY Sarah Leigh commented on gene: KY: 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.
Congenital myopathy v2.93 KY Anna Sarkozy edited their review of gene: KY: Added comment: 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.; Changed mode of pathogenicity: Other
Congenital myopathy v2.82 KY Sarah Leigh Deleted their comment
Congenital myopathy v2.82 KY Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: KY.
Congenital myopathy v2.82 KY Sarah Leigh Classified gene: KY as Amber List (moderate evidence)
Congenital myopathy v2.82 KY Sarah Leigh Added comment: Comment on list classification: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Congenital myopathy v2.82 KY Sarah Leigh Gene: ky has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.81 KY Sarah Leigh Deleted their comment
Congenital myopathy v2.74 KY Ivone Leong Tag watchlist was removed from gene: KY.
Tag for-review was removed from gene: KY.
Congenital myopathy v2.74 KY Sarah Leigh commented on gene: KY: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.
Congenital myopathy v2.73 KY Ivone Leong Source Expert Review Green was added to KY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v2.18 KY Sarah Leigh Classified gene: KY as Amber List (moderate evidence)
Congenital myopathy v2.18 KY Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital myopathy v2.18 KY Sarah Leigh Gene: ky has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.17 KY Sarah Leigh Tag for-review tag was added to gene: KY.
Congenital myopathy v2.17 KY Sarah Leigh reviewed gene: KY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v2.17 KY Sarah Leigh Phenotypes for gene: KY were changed from congenital myopathy to Myopathy, myofibrillar 7 OMIM:617114
Congenital myopathy v2.16 KY Sarah Leigh Publications for gene: KY were set to 27484770
Congenital myopathy v2.8 KY Anna Sarkozy edited their review of gene: KY: Added comment: 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; Changed rating: GREEN; Changed phenotypes: congenital myopathy
Congenital myopathy v2.5 KY Zornitza Stark reviewed gene: KY: Rating: GREEN; Mode of pathogenicity: None; Publications: 11136708, 27485408, 27484770, 30591934; Phenotypes: Myopathy, myofibrillar, 7, MIM#617114; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.72 FKBP14 Louise Daugherty Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557
Congenital myopathy KY Helen Brittain marked KY as ready
Congenital myopathy KY Helen Brittain classified KY as amber
Congenital myopathy KY Helen Brittain commented on KY
Congenital myopathy KY Anna Sarkozy reviewed KY