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Genetic epilepsy syndromes

Gene: ISPD

Amber List (moderate evidence)

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

5 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

ISPD appears to be associated predominantly with congenital muscular dystrophy, although there is some association with Walker-Warburg syndrome which may sometimes be associated with seizures, secondary to the brain abnormalities (e.g. cobblestone lissencephaly which can lead to hydrocephalus)
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 7 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 7 616052

Publications

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPA
Created: 28 Jan 2019, 4:25 p.m.

Ivone Leong (Genomics England Curator)

Comment when marking as ready: Seizures are more common features of other dystroglycanopathies, therefore ISPD will remain an amber gene as there is not enough evidence to promote it to a green gene currently. I have added the 'watchlist' tag.
Created: 3 Dec 2018, 10:39 a.m.
Comment when marking as ready: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 confirmed on OMIM but listed as Walker-Warburg syndrome, which comes under Muscular dystrophy-dystroglycanopathy, on Gene2Phenotype. Seizures is not listed as a phenotype for this gene/disorder on both databases. There is only one report of a patient who has a large deletion in the ISPD gene having seizures (PMID: 24120487). There are many genes that cause muscular dystrophy-dystroglycanopathy and the phenotypes are quite variable.
Created: 19 Nov 2018, 11:44 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of dystrogycanopathies.
Created: 16 Aug 2018, 1:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
  • Walker-Warburg syndrome
Tags
watchlist new-gene-name
OMIM
614631
Clinvar variants
Variants in ISPD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ISPD.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ISPD.

28 Jan 2019, Gel status: 2

Added Tag

Louise Daugherty (Genomics England Curator)

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

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

3 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ispd has been classified as Amber List (Moderate Evidence).

3 Dec 2018, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: ISPD.

19 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ispd has been classified as Amber List (Moderate Evidence).

19 Nov 2018, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ISPD were set to

19 Nov 2018, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643; Walker-Warburg syndrome

19 Nov 2018, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: ISPD was changed from to BIALLELIC, autosomal or pseudoautosomal

19 Nov 2018, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to ISPD. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ISPD was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ISPD was created by Sarah Leigh