Congenital disorders of glycosylation
Gene: FKTNEnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 panels
3 reviews
Rebecca Foulger (Genomics England curator)
GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=O75072-1Created: 9 Jan 2020, 2:34 p.m. | Last Modified: 9 Jan 2020, 2:34 p.m.
Panel Version: 2.0
Sarah Leigh (Genomics England Curator)
GlyGen link updated April 2021: https://www.glygen.org/protein/O75072-1#DiseaseCreated: 8 Apr 2021, 12:24 p.m. | Last Modified: 8 Apr 2021, 12:24 p.m.
Panel Version: 2.66
Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed Developmental Disorder Gene / G2P. At numerous variants reported.Created: 19 Dec 2016, 9:44 a.m.
Comment on phenotypes: Also associated with Cardiomyopathy, dilated, 1X 611615Created: 19 Dec 2016, 9:44 a.m.
Daniel Ungar (University of York, Department of Biology)
dystroglycanopathyCreated: 12 Dec 2016, 2:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
- Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
- 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
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Cerebellar hypoplasia
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Hydrocephalus
- Congenital disorders of glycosylation
- Arthrogryposis
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Congenital muscular dystrophy
- Paediatric or syndromic cardiomyopathy
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Set publications
Sarah Leigh (Genomics England Curator)Publications for FKTN were set to 27421908
Added New Source
Sarah Leigh (Genomics England Curator)FKTN was added to Congenital disorders of glycosylationpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)FKTN was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)FKTN was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)FKTN was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)FKTN was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)FKTN was created by sleigh