06 Aug 2019
Early onset or syndromic epilepsy v1.191
POMT1
Rebecca Foulger Source Wessex and West Midlands GLH was added to POMT1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
POMT1
Rebecca Foulger Source NHS GMS was added to POMT1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
POMT1
Rebecca Foulger reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
POMT1
Tracy Lester reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), 236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), 613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), 60930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Dec 2018
Early onset or syndromic epilepsy v0.1400
POMT1
Eleanor Williams Marked gene: POMT1 as ready
05 Dec 2018
Early onset or syndromic epilepsy v0.1400
POMT1
Eleanor Williams Gene: pomt1 has been classified as Green List (High Evidence).
05 Dec 2018
Early onset or syndromic epilepsy v0.1400
POMT1
Eleanor Williams Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
05 Dec 2018
Early onset or syndromic epilepsy v0.1399
POMT1
Eleanor Williams Publications for gene: POMT1 were set to
05 Dec 2018
Early onset or syndromic epilepsy v0.1398
POMT1
Eleanor Williams Mode of inheritance for gene: POMT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
05 Dec 2018
Early onset or syndromic epilepsy v0.1397
POMT1
Eleanor Williams Classified gene: POMT1 as Green List (high evidence)
05 Dec 2018
Early onset or syndromic epilepsy v0.1397
POMT1
Eleanor Williams Added comment: Comment on list classification: >3 cases of variants in this gene in patients with a relevant phenotype. £ patients reported with seizures.
05 Dec 2018
Early onset or syndromic epilepsy v0.1397
POMT1
Eleanor Williams Gene: pomt1 has been classified as Green List (High Evidence).
05 Dec 2018
Early onset or syndromic epilepsy v0.1396
POMT1
Eleanor Williams commented on gene: POMT1
19 Aug 2018
Early onset or syndromic epilepsy
POMT1
Zornitza Stark reviewed gene: POMT1
25 Jun 2018
Early onset or syndromic epilepsy
POMT1
Sarah Leigh Added gene to panel