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Molecular autopsy

Gene: FKTN

Green List (high evidence)
FKTN (fukutin)
EnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 panels

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

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

Panel version: 0.86

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
Phenotypes
  • Fukuyama congenital muscular dystrophy
  • Cardiomyopathy, dilated, 1X
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
  • Dilated Cardiomyopathy, Recessive
  • Fukuyama Congenital Muscular Dystrophy
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
  • Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
OMIM
607440
Clinvar variants
Variants in FKTN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to FKTN.

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes 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 for gene: FKTN

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: FKTN was added gene: FKTN was added to Molecular autopsy. 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 Fukuyama congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Fukuyama Congenital Muscular Dystrophy; Dilated Cardiomyopathy, Recessive; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Cardiomyopathy, dilated, 1X