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
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.
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).
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.
Rebecca Foulger Phenotypes for gene: HOXA1 were changed from to Athabaskan brainstem dysgenesis syndrome, 601536; Bosley-Salih-Alorainy syndrome, 601536