06 Aug 2019
Early onset or syndromic epilepsy v1.191
POMGNT1
Rebecca Foulger Source Wessex and West Midlands GLH was added to POMGNT1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
POMGNT1
Rebecca Foulger Source NHS GMS was added to POMGNT1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
POMGNT1
Rebecca Foulger reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
POMGNT1
Tracy Lester reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15466003; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3 253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation)type B, 3 613151, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 3 613157 , Retinitis pigmentosa 76 617123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Dec 2018
Early onset or syndromic epilepsy v0.1391
POMGNT1
Eleanor Williams Marked gene: POMGNT1 as ready
05 Dec 2018
Early onset or syndromic epilepsy v0.1391
POMGNT1
Eleanor Williams Gene: pomgnt1 has been classified as Green List (High Evidence).
05 Dec 2018
Early onset or syndromic epilepsy v0.1391
POMGNT1
Eleanor Williams Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
05 Dec 2018
Early onset or syndromic epilepsy v0.1390
POMGNT1
Eleanor Williams Mode of inheritance for gene: POMGNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
05 Dec 2018
Early onset or syndromic epilepsy v0.1389
POMGNT1
Eleanor Williams Publications for gene: POMGNT1 were set to
05 Dec 2018
Early onset or syndromic epilepsy v0.1388
POMGNT1
Eleanor Williams Classified gene: POMGNT1 as Green List (high evidence)
05 Dec 2018
Early onset or syndromic epilepsy v0.1388
POMGNT1
Eleanor Williams Added comment: Comment on list classification: > 3 cases with variants in this gene and seizures so rating green.
05 Dec 2018
Early onset or syndromic epilepsy v0.1388
POMGNT1
Eleanor Williams Gene: pomgnt1 has been classified as Green List (High Evidence).
05 Dec 2018
Early onset or syndromic epilepsy v0.1387
POMGNT1
Eleanor Williams commented on gene: POMGNT1
19 Aug 2018
Early onset or syndromic epilepsy
POMGNT1
Zornitza Stark reviewed gene: POMGNT1
25 Jun 2018
Early onset or syndromic epilepsy
POMGNT1
Sarah Leigh Added gene to panel