Ataxia and cerebellar anomalies - narrow panel
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, 4:24 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Congenital Muscular Dystrophy, alpha-dystroglycan related
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- Tags
- OMIM
- 614631
- Clinvar variants
- Variants in ISPD
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Fetal anomalies
- Cerebellar hypoplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
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.
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ISPD was added gene: ISPD was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISPD were set to 22522420 Phenotypes for gene: ISPD were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type