Early onset or syndromic epilepsy
Gene: ISPD
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
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
Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPACreated: 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.
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
Source Wessex and West Midlands GLH was added to ISPD.
Source NHS GMS was added to ISPD.
Tag new-gene-name tag was added to gene: ISPD.
Zornitza Stark: Seizures are part of the pheno
Gene: ispd has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: ISPD.
Gene: ispd has been classified as Amber List (Moderate Evidence).
Publications for gene: ISPD were set to
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
Mode of inheritance for gene: ISPD was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
Expert Review Amber was added to ISPD. Panel: Genetic Epilepsy Syndromes
ISPD was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ISPD was created by Sarah Leigh