Rhabdomyolysis and metabolic muscle disorders

Gene: FKTN

Red List (low evidence)

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

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

• 25929793

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

• 25929793