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Early onset or syndromic epilepsy v4.183 STAMBP Arina Puzriakova Phenotypes for gene: STAMBP were changed from Microcephaly-capillary malformation syndrome 614261 to Microcephaly-capillary malformation syndrome, OMIM:614261
Early onset or syndromic epilepsy v1.191 STAMBP Rebecca Foulger Source Wessex and West Midlands GLH was added to STAMBP.
Early onset or syndromic epilepsy v1.190 STAMBP Rebecca Foulger Source NHS GMS was added to STAMBP.
Early onset or syndromic epilepsy v1.189 STAMBP Rebecca Foulger reviewed gene: STAMBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 STAMBP Tracy Lester reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 21271646, 23542699 ; Phenotypes: Microcephaly-capillary malformation syndrome, 614261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1298 STAMBP Sarah Leigh Classified gene: STAMBP as Green List (high evidence)
Early onset or syndromic epilepsy v0.1298 STAMBP Sarah Leigh Gene: stambp has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1297 STAMBP Sarah Leigh Marked gene: STAMBP as ready
Early onset or syndromic epilepsy v0.1297 STAMBP Sarah Leigh Added comment: 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.
Early onset or syndromic epilepsy v0.1297 STAMBP Sarah Leigh Gene: stambp has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1297 STAMBP Sarah Leigh Publications for gene: STAMBP were set to
Early onset or syndromic epilepsy v0.1296 STAMBP Sarah Leigh Phenotypes for gene: STAMBP were changed from to Microcephaly-capillary malformation syndrome 614261
Early onset or syndromic epilepsy v0.1295 STAMBP Sarah Leigh Mode of inheritance for gene: STAMBP was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy STAMBP Zornitza Stark reviewed gene: STAMBP
Early onset or syndromic epilepsy STAMBP Sarah Leigh Added gene to panel