Early onset or syndromic epilepsy

Gene: ISPD

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

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

• 15937479
• 26195193

Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPA

Created: 28 Jan 2019, 4:25 p.m.

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.

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