Ataxia and cerebellar anomalies - narrow panel
Gene: ADPRHL2

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

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.

Panel Version: 3.30

Created: 5 Feb 2023, 5:18 p.m.
Last Modified: 5 Feb 2023, 5:18 p.m.
Panel version: 3.30

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 1 Apr 2021, 1:54 p.m. | Last Modified: 1 Apr 2021, 1:54 p.m.

Panel Version: 2.57

Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 8 variants reported in 8 unrelated cases, together with supportive fuctional studies and a Drosophila paralog where a loss of Parg resulted in lethality on oxidative challenge that was rescued by human ADPRHL2.
Created: 1 Apr 2021, 1:54 p.m. | Last Modified: 1 Apr 2021, 1:54 p.m.

Panel Version: 2.56

Added new-gene-name tag, new approved HGNC gene symbol for ADPRHL2 is ADPRS
Created: 1 Apr 2021, 1:43 p.m. | Last Modified: 1 Apr 2021, 1:43 p.m.

Panel Version: 2.56

Created: 1 Apr 2021, 1:43 p.m.
Last Modified: 1 Apr 2021, 1:43 p.m.
Panel version: 2.56

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.
Sources: Expert list
Created: 12 Sep 2020, 1:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 Sep 2020, 1:36 a.m.

Panel version: 2.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

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

19 Jan 2025, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: ADPRHL2 were set to 30100084; 30401461

5 Feb 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: ADPRHL2.

5 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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

27 Apr 2021, Gel status: 2