Intellectual_disability
Gene: ISPD

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

1 review

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: 0.1176

Details

Sources

Radboud University Medical Center, Nijmegen

Phenotypes

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

Tags

new-gene-name

OMIM

614631

Clinvar variants

Variants in ISPD

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Jan 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

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

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ISPD was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen

Intellectual_disability Gene: ISPD