This Panel is marked as Deleted
Epileptic encephalopathy Victorian Clinical Genetics Services
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
1 review
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPACreated: 28 Jan 2019, 4:27 p.m.
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Tags
- OMIM
- 614631
- Clinvar variants
- Variants in ISPD
- Penetrance
- None
- Panels with this gene
-
- Congenital disorders of glycosylation
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Hydrocephalus
- Likely inborn error of metabolism
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- Congenital muscular dystrophy
History Filter Activity
28 Jan 2019, Gel status: 4
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: ISPD.
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)ISPD was added to Epileptic encephalopathy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)ISPD was created by Sarah Leigh