Previous cardiomyopathies - including childhood onset
Gene: FKTN
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. Murakami Ann Neurol. 2006 Nov;60(5):597-602: four families with DCM and no limb abnormalities - 12 year old died with rapidly progressing DCM and an 18 year old had a heart implant.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
Source South West GLH was added to FKTN.
Eleanor Williams: Note: no phenotype in the sour
Added phenotypes Dilated Cardiomyopathy, Recessive; Cardiomyopathy, dilated, 1X for gene: FKTN
Added phenotypes Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Fukuyama congenital muscular dystrophy for gene: FKTN
gene: FKTN was added gene: FKTN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKTN were set to 27604308 Phenotypes for gene: FKTN were set to Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588