Arthrogryposis
Gene: FKTNEnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 panels
2 reviews
Alice Gardham (Genomics England)
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
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Fukuyama congenital muscular dystrophy
- Fukuyama Congenital Muscular Dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- OMIM
- 607440
- Clinvar variants
- Variants in FKTN
- Penetrance
- Complete
- Panels with this gene
-
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Hereditary neuropathy
- Congenital disorders of glycosylation
- Hereditary neuropathy or pain disorder
- Cerebellar hypoplasia
- Dilated Cardiomyopathy and conduction defects
- Structural eye disease
- Intellectual disability
- Dilated and arrhythmogenic cardiomyopathy
- Malformations of cortical development
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- DDG2P
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FKTN was added to Arthrogryposispanel. Source: Emory Genetics Laboratory FKTN was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services FKTN was added to Arthrogryposispanel. Source: UKGTN FKTN was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen FKTN was added to Arthrogryposispanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)FKTN was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)FKTN was created by ellenmcdonagh