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  3. ADPRHL2
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Hereditary ataxia with onset in adulthood

Gene: ADPRHL2

Amber List (moderate evidence)
ADPRHL2 (ADP-ribosylhydrolase like 2)
EnsemblGeneIds (GRCh38): ENSG00000116863
EnsemblGeneIds (GRCh37): ENSG00000116863
OMIM: 610624, Gene2Phenotype
ADPRHL2 is in 6 panels

5 reviews

Sarah Leigh (Genomics England Curator)

I don't know

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
Created: 27 Apr 2021, 1:54 p.m.
Last Modified: 27 Apr 2021, 1:59 p.m.
Panel version: 2.144

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Created: 12 Sep 2020, 1:39 a.m.
Last Modified: 12 Sep 2020, 1:39 a.m.
Panel version: 2.9

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

5 DM in HGMD. Relevant phenotype.
Created: 27 Apr 2019, 7:39 p.m.
Created: 27 Apr 2019, 7:39 p.m.

Panel version: 1.11

Louise Daugherty (Genomics England Curator)

I don't know

Added new-gene-name tag, new approved HGNC gene symbol for ADPRHL2 is ADPRS
Created: 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.
Created: 15 Apr 2019, 10:21 a.m.

Panel version: 2.0

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

14 families across the two publications
Created: 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

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170
  • neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Tags
new-gene-name
OMIM
610624
Clinvar variants
Variants in ADPRHL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_expert_review was removed from gene: ADPRHL2.

9 Mar 2022, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to ADPRHL2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

27 Apr 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: ADPRHL2.

1 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ADPRHL2 were set to

1 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

18 Dec 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: ADPRHL2.

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: adprhl2 has been classified as Green List (High Evidence).

27 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ADPRHL2 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to ADPRHL2.

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 for gene: ADPRHL2

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ADPRHL2.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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