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Early onset or syndromic epilepsy v1.191 HOXA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to HOXA1.
Early onset or syndromic epilepsy v1.190 HOXA1 Rebecca Foulger Source NHS GMS was added to HOXA1.
Early onset or syndromic epilepsy v1.189 HOXA1 Rebecca Foulger edited their review of gene: HOXA1: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Red. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 HOXA1 Tracy Lester reviewed gene: HOXA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Athabaskan brainstem dysgenesis syndrome, 601536 , Bosley-Salih-Alorainy syndrome, 601536; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger Marked gene: HOXA1 as ready
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger Gene: hoxa1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger commented on gene: HOXA1: Added watchlist tag.
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger Tag watchlist tag was added to gene: HOXA1.
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger Classified gene: HOXA1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. HOXA1 is a Confirmed DD-G2P gene for Athabaskan brainstem dysgenesis syndrome and Bosley-Salih-Alorainy syndrome; seizures are a variable feature of these HOXA1 spectrum disorders but aren't present in all affected individuals. Reported individuals so far are all from Saudi families or the Athabascan Indian population. Of the 5 BSAS or ABDS individuals summarised with seizures in PMID:18412118, it's unclear how many are related and therefore how many individual cases there are. Therefore rated Amber awaiting further clear cases.
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger Gene: hoxa1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1554 HOXA1 Rebecca Foulger commented on gene: HOXA1: PMID:18412118 (Bosley et al 2008) report 9 new individuals from 6 families (3 consanguineous Saudi families and 3 Native American families) who have homozygous variants of HOXA1 with either the Bosley-Salih-Alorainy Syndrome (BSAS) or the Athabascan Brainstem Dysgenesis Syndrome (ABDS). Seizures were seen in 2 patients (Saudi patients B1 and C1). Patient B1 had 2 unaffected siblings and six unaffected half siblings. Patients C1-C4 came from a consanguineous extended family, and seizures weren't noted in C2-C4. The Authors provide a summary, reporting seizures in 1/16 BSAS patients and 4/13 ABDS patients (it's unclear which of these patients are related).
Early onset or syndromic epilepsy v0.1554 HOXA1 Rebecca Foulger Deleted their comment
Early onset or syndromic epilepsy v0.1554 HOXA1 Rebecca Foulger Publications for gene: HOXA1 were set to 18412118
Early onset or syndromic epilepsy v0.1553 HOXA1 Rebecca Foulger commented on gene: HOXA1: Holve et al., 2003 (PMID:12833395): Seizures reported in 4/10 ABDS patients, all of which are Athabascan Indian children. Genetic analysis was not performed.
Early onset or syndromic epilepsy v0.1543 HOXA1 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by the literature (e.g. PMID:18412118)
Early onset or syndromic epilepsy v0.1543 HOXA1 Rebecca Foulger Mode of inheritance for gene: HOXA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1542 HOXA1 Rebecca Foulger Publications for gene: HOXA1 were set to
Early onset or syndromic epilepsy v0.1541 HOXA1 Rebecca Foulger commented on gene: HOXA1
Early onset or syndromic epilepsy v0.1537 HOXA1 Rebecca Foulger Phenotypes for gene: HOXA1 were changed from to Athabaskan brainstem dysgenesis syndrome, 601536; Bosley-Salih-Alorainy syndrome, 601536
Early onset or syndromic epilepsy HOXA1 Zornitza Stark reviewed gene: HOXA1
Early onset or syndromic epilepsy HOXA1 Sarah Leigh Added gene to panel