Hereditary ataxia with onset in adulthood
Gene: ADPRHL2
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
The Q2_21_expert_review tag has been added to this gene as there is a conflict of opinion of the rating of ADPRHL2 on the this - Hereditary ataxia - adult onset - panel, as variants in ADPRHL2 are usually associated with Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 in infancy or in childhood. The green rating may be justified to ensure that edge cases may be identified.
GMS opinion is sort on this issue.Created: 27 Apr 2021, 1:54 p.m. | Last Modified: 27 Apr 2021, 1:59 p.m.
Panel Version: 2.42
Onset is typically in infancy/childhood.Created: 12 Sep 2020, 1:39 a.m. | Last Modified: 12 Sep 2020, 1:39 a.m.
Panel Version: 2.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170
5 DM in HGMD. Relevant phenotype.Created: 27 Apr 2019, 7:39 p.m.
Added new-gene-name tag, new approved HGNC gene symbol for ADPRHL2 is ADPRSCreated: 18 Dec 2019, 4:49 p.m. | Last Modified: 18 Dec 2019, 4:49 p.m.
Panel Version: 2.0
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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.Created: 15 Apr 2019, 10:21 a.m.
14 families across the two publicationsCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170
Tag Q2_21_expert_review was removed from gene: ADPRHL2.
Source Expert Review Amber was added to ADPRHL2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q2_21_expert_review tag was added to gene: ADPRHL2.
Publications for gene: ADPRHL2 were set to
Phenotypes for gene: ADPRHL2 were changed from Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Tag new-gene-name tag was added to gene: ADPRHL2.
Gene: adprhl2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: ADPRHL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source London North GMS was added to ADPRHL2.
Added phenotypes Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 for gene: ADPRHL2
Source NHS GMS was added to ADPRHL2.
gene: ADPRHL2 was added gene: ADPRHL2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ADPRHL2 was set to