Rhabdomyolysis and metabolic muscle disorders

Gene: FKTN

Green List (high evidence)

FKTN (fukutin)
EnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 25 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Sarah Leigh (Genomics England Curator)

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

Phenotypes
Fukuyama congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800

Publications

History Filter Activity

28 Oct 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_21_expert_review tag was added to gene: FKTN.

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

2 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

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

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FKTN was created by sleigh