Dilated and arrhythmogenic cardiomyopathy

Gene: FKTN

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.

Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.

Panel Version: 0.52

I don't know

Causative for Fukuyama-type congenital muscular dystrophy, limited association with DCM in isolation although some reports in HGMD.

Created: 18 Oct 2019, 3:03 p.m. | Last Modified: 18 Oct 2019, 3:03 p.m.

Panel Version: 0.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1X 611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588

Publications

• 19015585
• 17036286
• 27521547

Red List (low evidence)

Not associated with primary non-syndromic DCM, but causes AR dystrophies (muscular dystrophy-dystroglycanopathy), so red list for a DCM panel, but should appear on syndromic cardiomyopathy panels

Created: 29 Apr 2019, 1:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Walker-Warburg syndrome (WWS); Fukuyama congenital muscular dystrophy; Cardiomyopathy, dilated, 1X

Publications

• 17878207, 18177472, 18752264 , 19266496, 27065010

I don't know

Cardiomyopathy, dilated, 1X OMIM#611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, OMIM#253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, OMIM#613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, OMIM#611588.

Created: 25 Mar 2019, 4:30 p.m.

HGMD: 4 variants 3 x DM but older literature.

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.

Created: 24 Mar 2019, 10:19 a.m.

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.

Created: 20 Feb 2019, 2:17 p.m.

Comment when marking as ready: On DDG2P linked with DCM

Created: 14 Feb 2016, 4:17 p.m.

Red List (low evidence)

Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.

Created: 17 Jan 2019, 5:41 p.m.