Early onset or syndromic epilepsy

Gene: STAMBP

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: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AR microcephaly-capillary malformation syndrome - characterised by severe prog microcephaly, early-onset refractory epilepsy, profound dev delay. Carter et al, 2011 - 2 unrelated male infants both developed intractable seizures in first few months of life. Mirzaa et al, 2011 - 3 children from 2 unrelated families - 2 sibs born of African-American parents had severe microcephaly and intractable seizures, other child developed intractable seizures soon after birth. Isidor et al, 2011 - female - less severe pheon than the Carter et al paper but severe seizures occured around 12 months. McDonnell et al, 2013 - reported 10 patients from 9 families all of which had biallelic STAMBP mutations - - some of these patients were reported by the three authors already listed. Protein studes and cellilar studies undertaken.

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
Microcephaly-capillary malformation syndrome, 614261

Publications

• 21271646
• 23542699

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in at least 6 unrelated cases in which seizures are a phenotypic feature.

Created: 3 Dec 2018, 10:54 a.m.

Green List (high evidence)

Seizures are part of the phenotype.

Created: 22 Aug 2018, 5:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly-capillary malformation syndrome, MIM#614261

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