Adult onset neurodegenerative disorder
Gene: ATP1A2
Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment - only one family reported?. The disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; 141500) and GLUT1 deficiency syndrome (606777). familial hemiplegic migraine-2 (FHM2) and familial basilar migraine are caused by heterozygous mutation in the same gene - migraine with aura, visual disturbances, language disturbances (dysarthria, dysphasia), hemiparesis, hemiparesthesias, and often confusion. Biallelic LOF variants recently reported in association with extensive cortical malformations. Non progressive disorders - red.Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia; alternating hemiplegia of childhood 104290; familial basilar migraine 602481; migraine; familial hemiplegic migraine type 2, 602481
Publications
Childhood onsetCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia; alternating hemiplegia of childhood 104290; familial basilar migraine 602481; migraine; familial hemiplegic migraine type 2, 602481
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Source Expert Review Red was added to ATP1A2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to ATP1A2.
Source Yorkshire and North East GLH was added to ATP1A2.
Source NHS GMS was added to ATP1A2.
Source London North GLH was added to ATP1A2.
Louise Daugherty: Comment on phenotypes: amended
Tag treatable tag was added to gene: ATP1A2.
Added phenotypes Dystonia; migraine for gene: ATP1A2
gene: ATP1A2 was added gene: ATP1A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A2 were set to 12539047; 18056581; 12953268 Phenotypes for gene: ATP1A2 were set to alternating hemiplegia of childhood 104290; familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481