Malformations of cortical development

Gene: ISPD

Green List (high evidence)

ISPD (isoprenoid synthase domain containing)
EnsemblGeneIds (GRCh38): ENSG00000214960
EnsemblGeneIds (GRCh37): ENSG00000214960
OMIM: 614631, Gene2Phenotype
ISPD is in 18 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPA
Created: 28 Jan 2019, 4:26 p.m.

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P
Created: 19 Dec 2016, 11:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
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
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

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

ISPD was created by agardham

19 Dec 2016, Gel status: 4

Added New Source

Alice Gardham (Genomics England)

ISPD was added to Malformations of cortical developmentpanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services