Adult onset neurodegenerative disorder
Gene: AAAS
The association of adrenal and neurologic disease in the triple-A syndrome is similar to that in X-linked adrenoleukodystrophy. Lanes et al. (1980) suggested that a degenerative process of progressive nature may be responsible for the 3 features of this syndrome of alacrima-achalasia-addisonianism. Patients develop polyneuropathy, parkinsonism, mild dementia. Several cases.Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome, 231550
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome, 231550
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.
Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome, 231550 to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
Source Expert Review Red was added to AAAS. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to AAAS.
Source Yorkshire and North East GLH was added to AAAS.
Source NHS GMS was added to AAAS.
Source London North GLH was added to AAAS.
Checked panel against panel constituents. Ready to promote to version 1
Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
gene: AAAS was added gene: AAAS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal