Rhabdomyolysis and metabolic muscle disordersGene: FKTN
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
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 25929793
Created: 1 Dec 2016, 3:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Fukuyama congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
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 added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature
FKTN was created by sleigh