Rhabdomyolysis and metabolic muscle disorders
Gene: FKTN
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.
Panel Version: 2.5
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 4:45 p.m. | Last Modified: 5 Oct 2022, 4:45 p.m.
Panel Version: 1.78
Rhabdomyolysis is not a significant feature of this muscle disorder, at best one report.Created: 7 Oct 2020, 10:44 p.m. | Last Modified: 7 Oct 2020, 10:44 p.m.
Panel Version: 1.42
Publications
Q4_21_expert_review tag has been added to this gene. Helen Brittain (Genomics England Clinical Fellow) has suggested that the rating of this gene should be considered by TEWG oversight committee, in response to Zornitza Stark's Red review, that Rhabdomyolysis is not a significant feature of this muscle disorder.Created: 28 Oct 2021, 12:38 p.m. | Last Modified: 28 Oct 2021, 12:38 p.m.
Panel Version: 1.57
Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed Developmental Disorder Gene / G2P for each phenotype. Numerous variants reported including a 3kb retrosposon insertion in Japanese patients.Created: 2 Dec 2016, 11:36 a.m.
Only one case reported in PMID 25929793Created: 1 Dec 2016, 3:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fukuyama congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Publications
Tag Q3_22_rating was removed from gene: FKTN. Tag Q3_22_expert_review was removed from gene: FKTN.
Source Expert Review Red was added to FKTN. Source NHS GMS was added to FKTN. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q4_21_expert_review was removed from gene: FKTN. Tag Q3_22_rating tag was added to gene: FKTN. Tag Q3_22_expert_review tag was added to gene: FKTN.
Tag Q4_21_expert_review tag was added to gene: FKTN.
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
FKTN was created by sleigh
FKTN was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature