Congenital disorders of glycosylation
Gene: ISPDAdded new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPACreated: 28 Jan 2019, 4:24 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 13 variants reported in Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643 and 2 in Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 .Created: 19 Dec 2016, 4:11 p.m.
Tag new-gene-name tag was added to gene: ISPD.
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for ISPD were set to 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 disorders of glycosylationpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
ISPD was added to Congenital disorders of glycosylationpanel. Sources: Literature
ISPD was created by ungardani