Intellectual disability
Gene: ATP1A2
PMID 33880529: six individuals with de novo missense variants reported and DD/EE/PMG.Created: 9 Jul 2021, 5:20 a.m. | Last Modified: 9 Jul 2021, 5:20 a.m.
Panel Version: 3.1167
Alternating hemiplegia: Although some of the symptoms of this condition are episodic, intellectual disability is a recognised feature.Created: 29 Jan 2020, 9:02 a.m. | Last Modified: 9 Jul 2021, 5:21 a.m.
Panel Version: 3.1167
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 29 Sep 2018, 10:18 p.m.
Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 29 Sep 2018, 10:16 p.m.
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
There is enough evidence for this gene to be rated GREEN at the next major review.Created: 8 Sep 2020, 6:27 p.m. | Last Modified: 8 Sep 2020, 6:27 p.m.
Panel Version: 3.295
Associated with phenotype in OMIM and in G2P for MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related. Three variants associated with congnitive impairment in 2/7 and 1/5 members of two families with Migraine, familial hemiplegic, 2 602481. At least 12 variants have been reported in Migraine, familial hemiplegic, 2 602481 families (PMID 15159495). An additional variant was reported in a case of Alternating hemiplegia of childhood 1, 104290 with impared cognitive function (PMID 29610157).Created: 8 Sep 2020, 6:26 p.m. | Last Modified: 8 Sep 2020, 6:26 p.m.
Panel Version: 3.295
Associated with phenotype in OMIM, not in G2P. Two variants associated with congnative impairment in 2/7 and 1/5 members of two families with Migraine, familial hemiplegic, 2 602481. At least 12 variants have been reported in Migraine, familial hemiplegic, 2 602481 familiesCreated: 15 Dec 2017, 9:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Tag for-review was removed from gene: ATP1A2.
Source Expert Review Green was added to ATP1A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: ATP1A2 were set to 15159495; 29610157
Tag for-review tag was added to gene: ATP1A2.
Phenotypes for gene: ATP1A2 were changed from Migraine, familial hemiplegic, 2 602481 to Migraine, familial hemiplegic, 2 602481; Alternating hemiplegia of childhood 1, 104290
Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Source Victorian Clinical Genetics Services was added to ATP1A2.
Publications for gene: ATP1A2 were set to 15159495; 29610157
12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.
Expert Review Amber was added to ATP1A2. Panel: Intellectual disability Model of inheritance for gene ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene ATP1A2 was set to ['15159495']
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
ATP1A2 was added to Intellectual disabilitypanel. Source: Expert Review Red
ATP1A2 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen