Congenital muscular dystrophy
Gene: ISPD
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Walker-Warburg syndrome (WWS); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; 616052
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPACreated: 28 Jan 2019, 4:26 p.m.
Comment when marking as ready: Green expert review, confirmed DD gene for Walker-Warburg Syndrome and >3 cases/family reports.Created: 17 Jan 2017, 10:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Source was removed from ISPD.
Publications for gene: ISPD were set to 22522420, 22522421
Phenotypes for gene: ISPD were changed from Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Walker-Warburg syndrome (WWS); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; 616052 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643
Publications for gene ISPD were changed from to 22522420, 22522421
Source NHS GMS was added to ISPD.
Source London South GLH was added to ISPD. Rating Changed from Green List (high evidence) to Green List (high evidence)
Tag new-gene-name tag was added to gene: ISPD.
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 ISPD were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type;Walker-Warburg syndrome (WWS);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7;616052
Phenotypes for ISPD were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type;Walker-Warburg syndrome (WWS);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7;616052
ISPD was added to Congenital muscular dystrophypanel. Source:
Model of inheritance for gene ISPD was changed to BIALLELIC, autosomal or pseudoautosomal
ISPD was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Model of inheritance for gene ISPD was changed to BIALLELIC, autosomal or pseudoautosomal
ISPD was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
ISPD was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen