01 Apr 2021
Early onset or syndromic epilepsy v2.311
ADPRHL2
Sarah Leigh Publications for gene: ADPRHL2 were set to 30100084
01 Apr 2021
Early onset or syndromic epilepsy v2.310
ADPRHL2
Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Intellectual disability, cerebellar atrophy, ataxia and epilepsy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
18 Dec 2019
Early onset or syndromic epilepsy v2.0
ADPRHL2
Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2.
18 Dec 2019
Early onset or syndromic epilepsy v2.0
ADPRHL2
Louise Daugherty commented on gene: ADPRHL2
06 Aug 2019
Early onset or syndromic epilepsy v1.191
ADPRHL2
Rebecca Foulger Source Wessex and West Midlands GLH was added to ADPRHL2.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
ADPRHL2
Rebecca Foulger Source NHS GMS was added to ADPRHL2.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
ADPRHL2
Rebecca Foulger reviewed gene: ADPRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
ADPRHL2
Tracy Lester reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30100084; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Sep 2018
Early onset or syndromic epilepsy v0.439
ADPRHL2
Sarah Leigh Marked gene: ADPRHL2 as ready
25 Sep 2018
Early onset or syndromic epilepsy v0.439
ADPRHL2
Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Recent publication reports 6 different variants in affected members of 6 apparently unrelated families. Generalized tonic-clonic seizures were reported in 3/6 families, the seizures were were in response to other illness in one of these families.
25 Sep 2018
Early onset or syndromic epilepsy v0.439
ADPRHL2
Sarah Leigh Gene: adprhl2 has been classified as Green List (High Evidence).
25 Sep 2018
Early onset or syndromic epilepsy v0.439
ADPRHL2
Sarah Leigh Publications for gene: ADPRHL2 were set to DOI:https://doi.org/10.1016/j.ajhg.2018.07.010
25 Sep 2018
Early onset or syndromic epilepsy v0.438
ADPRHL2
Sarah Leigh Classified gene: ADPRHL2 as Green List (high evidence)
25 Sep 2018
Early onset or syndromic epilepsy v0.438
ADPRHL2
Sarah Leigh Gene: adprhl2 has been classified as Green List (High Evidence).
14 Aug 2018
Early onset or syndromic epilepsy
ADPRHL2
Konstantinos Varvagiannis reviewed gene: ADPRHL2
12 Aug 2018
Early onset or syndromic epilepsy
ADPRHL2
Zornitza Stark Added gene to panel