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Genetic epilepsy syndromes

Gene: HOXA1

Amber List (moderate evidence)

HOXA1 (homeobox A1)
EnsemblGeneIds (GRCh38): ENSG00000105991
EnsemblGeneIds (GRCh37): ENSG00000105991
OMIM: 142955, Gene2Phenotype
HOXA1 is in 6 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Limited number of variants reported in HOXA1, but of those reported are associated with Athabaskan brainstem dysgenesis syndrome which may include seizures (PMID 12833395).
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
Unknown

Phenotypes
Athabaskan brainstem dysgenesis syndrome, 601536 ; Bosley-Salih-Alorainy syndrome, 601536

Rebecca Foulger (Genomics England curator)

I don't know

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.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Added watchlist tag.
Created: 11 Dec 2018, 2:22 p.m.
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.
Created: 11 Dec 2018, 2:22 p.m.
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).
Created: 11 Dec 2018, 2:19 p.m.
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.
Created: 11 Dec 2018, 2:18 p.m.
Comment on mode of inheritance: Biallelic MOI supported by the literature (e.g. PMID:18412118)
Created: 11 Dec 2018, 1:54 p.m.

Zornitza Stark (Australian Genomics)

I don't know

Biallelic variants in this gene cause a syndrome affecting hindbrain development, with BSAS and ABDS allelic disorders. Some patients with ABDS have been reported as having seizures; however, it is unclear whether this is a common part of the phenotype.
Created: 15 Aug 2018, 1:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Athabaskan brainstem dysgenesis syndrome, 601536
  • Bosley-Salih-Alorainy syndrome, 601536
Tags
watchlist
OMIM
142955
Clinvar variants
Variants in HOXA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to HOXA1.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to HOXA1.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Biallelic variants in this gen

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: hoxa1 has been classified as Amber List (Moderate Evidence).

11 Dec 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: HOXA1.

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: hoxa1 has been classified as Amber List (Moderate Evidence).

11 Dec 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: HOXA1 were set to 18412118

11 Dec 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: HOXA1 was changed from to BIALLELIC, autosomal or pseudoautosomal

11 Dec 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: HOXA1 were set to

11 Dec 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to HOXA1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

HOXA1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

HOXA1 was created by Sarah Leigh