Malformations of cortical development
Gene: ISPD
ISPD (isoprenoid synthase domain containing)
EnsemblGeneIds (GRCh38): ENSG00000214960
EnsemblGeneIds (GRCh37): ENSG00000214960
OMIM: 614631, Gene2Phenotype
ISPD is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000214960
EnsemblGeneIds (GRCh37): ENSG00000214960
OMIM: 614631, Gene2Phenotype
ISPD is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPACreated: 28 Jan 2019, 4:26 p.m.
Alice Gardham (Genomics England)
Recognised on G2PCreated: 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
- OMIM
- 614631
- Clinvar variants
- Variants in ISPD
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Likely inborn error of metabolism
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Intellectual disability
- Congenital disorders of glycosylation
- Structural eye disease
- Hydrocephalus
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Congenital muscular dystrophy
- Early onset or syndromic epilepsy
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