06 Aug 2019
Early onset or syndromic epilepsy v1.191
POMT2
Rebecca Foulger Source Wessex and West Midlands GLH was added to POMT2.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
POMT2
Rebecca Foulger Source NHS GMS was added to POMT2.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
POMT2
Rebecca Foulger reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
POMT2
Tracy Lester reviewed gene: POMT2: Rating: RED; Mode of pathogenicity: ; Publications: 17878207; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) , 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2018
Early onset or syndromic epilepsy v0.481
POMT2
Sarah Leigh Marked gene: POMT2 as ready
26 Sep 2018
Early onset or syndromic epilepsy v0.481
POMT2
Sarah Leigh Gene: pomt2 has been classified as Amber List (Moderate Evidence).
26 Sep 2018
Early onset or syndromic epilepsy v0.481
POMT2
Sarah Leigh Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
26 Sep 2018
Early onset or syndromic epilepsy v0.480
POMT2
Sarah Leigh Added comment: Comment on phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
26 Sep 2018
Early onset or syndromic epilepsy v0.480
POMT2
Sarah Leigh Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
26 Sep 2018
Early onset or syndromic epilepsy v0.472
POMT2
Sarah Leigh Mode of inheritance for gene: POMT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
26 Sep 2018
Early onset or syndromic epilepsy v0.471
POMT2
Sarah Leigh Marked gene: POMT2 as ready
26 Sep 2018
Early onset or syndromic epilepsy v0.471
POMT2
Sarah Leigh Gene: pomt2 has been classified as Amber List (Moderate Evidence).
19 Aug 2018
Early onset or syndromic epilepsy
POMT2
Zornitza Stark reviewed gene: POMT2
25 Jun 2018
Early onset or syndromic epilepsy
POMT2
Sarah Leigh Added gene to panel