Congenital muscular dystrophy
Gene: FKTN
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
Fukuyama congenital muscular dystrophy; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Publications
Variants in this GENE are reported as part of current diagnostic practice
Retrotransposons and large insertions identified and reported with association with diseases, as well as SNVs or small indels.Created: 16 Jan 2017, 4:53 p.m.
Comment when marking as ready: Expert review green, and confirmed DD gene for relevant diseases. Multiple cases reported.Created: 16 Jan 2017, 4:50 p.m.
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
Source was removed from FKTN.
Phenotypes for gene: FKTN were changed from Fukuyama congenital muscular dystrophy; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800; Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, OMIM:613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, OMIM:611588
Publications for gene FKTN were changed from to 12601708; 14627679
Source NHS GMS was added to FKTN.
Source London South GLH was added to FKTN. 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).
FKTN was added to Congenital muscular dystrophypanel. Source:
Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
FKTN was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
FKTN was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
FKTN was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
FKTN was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen