Adult onset neurodegenerative disorder
Gene: ATM
Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Patients present in early childhood with progressive cerebellar ataxia and later develop conjunctival telangiectases, other progressive neurologic degeneration, sinopulmonary infection, and malignancies. Telangiectases typically develop between 3 and 5 years of age, though are cases of avriant atypical form with adult-onset. The genotype of AT variants is most often compound heterozygous for a severe mutation together with a mild or leaky mutation, which expresses some ATM protein with residual function. 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
Dystonia; Ataxia-Telangiectasia; Ataxia telangiectasia; Ataxia-telangiectasia,
Young 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
Dystonia; Ataxia-Telangiectasia; Ataxia telangiectasia
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: ATM were changed from Dystonia; Ataxia-Telangiectasia; Ataxia telangiectasia; Ataxia-telangiectasia, to Ataxia-telangiectasia, OMIM:208900
Source Expert Review Red was added to ATM. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to ATM.
Source Yorkshire and North East GLH was added to ATM.
Source NHS GMS was added to ATM.
Source London North GLH was added to ATM.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes Dystonia; Ataxia telangiectasia for gene: ATM
gene: ATM was added gene: ATM was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-telangiectasia,; Ataxia-Telangiectasia