Congenital disorders of glycosylation
Gene: ISPD

ISPD (isoprenoid synthase domain containing)
EnsemblGeneIds (GRCh38): ENSG00000214960
EnsemblGeneIds (GRCh37): ENSG00000214960
OMIM: 614631, Gene2Phenotype
ISPD is in 17 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPA
Created: 28 Jan 2019, 4:24 p.m.

Created: 28 Jan 2019, 4:24 p.m.

Panel version: 1.21

Sarah Leigh (Genomics England Curator)

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.

Created: 19 Dec 2016, 4:11 p.m.

Panel version: 0.169

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 12 Dec 2016, 3:20 p.m.

Panel version: 0.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052

Tags

new-gene-name

OMIM

614631

Clinvar variants

Variants in ISPD

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

28 Jan 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: ISPD.

19 Dec 2016, Gel status: 4