06 Aug 2019
Early onset or syndromic epilepsy v1.191
RMND1
Rebecca Foulger Source Wessex and West Midlands GLH was added to RMND1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
RMND1
Rebecca Foulger Source NHS GMS was added to RMND1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
RMND1
Rebecca Foulger reviewed gene: RMND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
RMND1
Tracy Lester reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23022098, 27412952 ; Phenotypes: Combined oxidative phosphorylation deficiency, 614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Nov 2018
Early onset or syndromic epilepsy v0.1166
RMND1
Sarah Leigh Marked gene: RMND1 as ready
26 Nov 2018
Early onset or syndromic epilepsy v0.1166
RMND1
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases in which seizures are a phenotypic feature.
26 Nov 2018
Early onset or syndromic epilepsy v0.1166
RMND1
Sarah Leigh Gene: rmnd1 has been classified as Green List (High Evidence).
26 Nov 2018
Early onset or syndromic epilepsy v0.1166
RMND1
Sarah Leigh Classified gene: RMND1 as Green List (high evidence)
26 Nov 2018
Early onset or syndromic epilepsy v0.1166
RMND1
Sarah Leigh Gene: rmnd1 has been classified as Green List (High Evidence).
26 Nov 2018
Early onset or syndromic epilepsy v0.1165
RMND1
Sarah Leigh Publications for gene: RMND1 were set to
26 Nov 2018
Early onset or syndromic epilepsy v0.1161
RMND1
Sarah Leigh Phenotypes for gene: RMND1 were changed from to Combined oxidative phosphorylation deficiency 11, 614922
26 Nov 2018
Early onset or syndromic epilepsy v0.1160
RMND1
Sarah Leigh Mode of inheritance for gene: RMND1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Aug 2018
Early onset or syndromic epilepsy
RMND1
Zornitza Stark reviewed gene: RMND1
25 Jun 2018
Early onset or syndromic epilepsy
RMND1
Sarah Leigh Added gene to panel