Congenital disorders of glycosylation
Gene: FKRPGlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9H9S5-1Created: 9 Jan 2020, 2:33 p.m. | Last Modified: 9 Jan 2020, 2:33 p.m.
Panel Version: 2.0
GlyGen link updated April 2021: https://www.glygen.org/protein/Q9H9S5-1#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, 9:38 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 FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Publications for FKRP were set to 27421908
FKRP was added to Congenital disorders of glycosylationpanel. Source: UKGTN
FKRP was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
FKRP was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene FKRP was set to BIALLELIC, autosomal or pseudoautosomal
FKRP was created by sleigh
FKRP was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory