Congenital disorders of glycosylation
Gene: FKTNGlyGen 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
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.
dystroglycanopathyCreated: 12 Dec 2016, 2:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
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)
Publications for FKTN were set to 27421908
FKTN was added to Congenital disorders of glycosylationpanel. Source: UKGTN
FKTN was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
FKTN was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene FKTN was set to BIALLELIC, autosomal or pseudoautosomal
FKTN was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
FKTN was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
FKTN was created by sleigh