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Early onset or syndromic epilepsy v7.19 ADPRHL2 Eleanor Williams Publications for gene: ADPRHL2 were set to 30100084; 30401461
Early onset or syndromic epilepsy v2.311 ADPRHL2 Sarah Leigh Publications for gene: ADPRHL2 were set to 30100084
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
Early onset or syndromic epilepsy v2.0 ADPRHL2 Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2.
Early onset or syndromic epilepsy v2.0 ADPRHL2 Louise Daugherty commented on gene: ADPRHL2
Early onset or syndromic epilepsy v1.191 ADPRHL2 Rebecca Foulger Source Wessex and West Midlands GLH was added to ADPRHL2.
Early onset or syndromic epilepsy v1.190 ADPRHL2 Rebecca Foulger Source NHS GMS was added to ADPRHL2.
Early onset or syndromic epilepsy v1.189 ADPRHL2 Rebecca Foulger reviewed gene: ADPRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.439 ADPRHL2 Sarah Leigh Marked gene: ADPRHL2 as ready
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.
Early onset or syndromic epilepsy v0.439 ADPRHL2 Sarah Leigh Gene: adprhl2 has been classified as Green List (High Evidence).
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
Early onset or syndromic epilepsy v0.438 ADPRHL2 Sarah Leigh Classified gene: ADPRHL2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.438 ADPRHL2 Sarah Leigh Gene: adprhl2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy ADPRHL2 Konstantinos Varvagiannis reviewed gene: ADPRHL2
Early onset or syndromic epilepsy ADPRHL2 Zornitza Stark Added gene to panel