Early onset or syndromic epilepsy
Gene: STAMBP
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
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
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.
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
Phenotypes for gene: STAMBP were changed from Microcephaly-capillary malformation syndrome 614261 to Microcephaly-capillary malformation syndrome, OMIM:614261
Source Wessex and West Midlands GLH was added to STAMBP.
Source NHS GMS was added to STAMBP.
Zornitza Stark: Seizures are part of the pheno
Gene: stambp has been classified as Green List (High Evidence).
Gene: stambp has been classified as Amber List (Moderate Evidence).
Publications for gene: STAMBP were set to
Phenotypes for gene: STAMBP were changed from to Microcephaly-capillary malformation syndrome 614261
Mode of inheritance for gene: STAMBP was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to STAMBP. Panel: Genetic Epilepsy Syndromes
STAMBP was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
STAMBP was created by Sarah Leigh