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Severe Paediatric Disorders

Gene: FKTN

Green List (high evidence)

FKTN (fukutin)
EnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 24 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FKTN; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardiomyopathy, dilated, 1X, 611615 (3) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) | Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3) | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800
  • Cardiomyopathy, dilated, 1X, 611615
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
OMIM
607440
Clinvar variants
Variants in FKTN
Penetrance
None
Publications
Panels with this gene