25 Mar 2024
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
06 Aug 2019
Early onset or syndromic epilepsy v1.191
STAMBP
Rebecca Foulger Source Wessex and West Midlands GLH was added to STAMBP.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
STAMBP
Rebecca Foulger Source NHS GMS was added to STAMBP.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
STAMBP
Rebecca Foulger reviewed gene: STAMBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
03 Dec 2018
Early onset or syndromic epilepsy v0.1298
STAMBP
Sarah Leigh Classified gene: STAMBP as Green List (high evidence)
03 Dec 2018
Early onset or syndromic epilepsy v0.1298
STAMBP
Sarah Leigh Gene: stambp has been classified as Green List (High Evidence).
03 Dec 2018
Early onset or syndromic epilepsy v0.1297
STAMBP
Sarah Leigh Marked gene: STAMBP as ready
03 Dec 2018
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.
03 Dec 2018
Early onset or syndromic epilepsy v0.1297
STAMBP
Sarah Leigh Gene: stambp has been classified as Amber List (Moderate Evidence).
03 Dec 2018
Early onset or syndromic epilepsy v0.1297
STAMBP
Sarah Leigh Publications for gene: STAMBP were set to
03 Dec 2018
Early onset or syndromic epilepsy v0.1296
STAMBP
Sarah Leigh Phenotypes for gene: STAMBP were changed from to Microcephaly-capillary malformation syndrome 614261
03 Dec 2018
Early onset or syndromic epilepsy v0.1295
STAMBP
Sarah Leigh Mode of inheritance for gene: STAMBP was changed from to BIALLELIC, autosomal or pseudoautosomal
22 Aug 2018
Early onset or syndromic epilepsy
STAMBP
Zornitza Stark reviewed gene: STAMBP
25 Jun 2018
Early onset or syndromic epilepsy
STAMBP
Sarah Leigh Added gene to panel