Congenital muscular dystrophy and congenital myopathy
Gene: FKTNEnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fukuyama congenital muscular dystrophy; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Retrotransposons and large insertions identified and reported with association with diseases, as well as SNVs or small indels.Created: 16 Jan 2017, 4:53 p.m.
Comment when marking as ready: Expert review green, and confirmed DD gene for relevant diseases. Multiple cases reported.Created: 16 Jan 2017, 4:50 p.m.
Emma Clement (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fukuyama congenital muscular dystrophy; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- London South GLH
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- NHS GMS
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800
- Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, OMIM:613152
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, OMIM:611588
- Tags
- OMIM
- 607440
- Clinvar variants
- Variants in FKTN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Dilated and arrhythmogenic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Congenital muscular dystrophy
History Filter Activity
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: FKTN was added gene: FKTN was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,UKGTN,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen,London South GLH,Illumina TruGenome Clinical Sequencing Services structural-variant tags were added to gene: FKTN. Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKTN were set to 12601708; 14627679 Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800; Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, OMIM:613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, OMIM:611588 Penetrance for gene: FKTN were set to Complete