Congenital muscular dystrophy
Gene: FKRP
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Expert review green, confirmed DD gene for these phenotypes and >3 cases published.Created: 11 Jan 2017, 12:27 p.m.
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Source was removed from FKRP.
Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153; Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, OMIM:606612
Publications for gene FKRP were changed from to 11592034
Source NHS GMS was added to FKRP.
Source London South GLH was added to FKRP. Rating Changed from Green List (high evidence) to Green List (high evidence)
27.01.2017 Panel revised after expert review and internal review with further curation.
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;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Mode of inheritance for FKRP was changed to BIALLELIC, autosomal or pseudoautosomal
FKRP was added to Congenital muscular dystrophypanel. Source:
FKRP was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
FKRP was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
FKRP was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN