Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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

2 reviews

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
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

1 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: adprhl2 has been classified as Amber List (Moderate Evidence).

1 Apr 2021, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

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

1 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ADPRHL2 were changed from Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM: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

1 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ADPRHL2 were changed from Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170 to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170

12 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: ADPRHL2 was added gene: ADPRHL2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADPRHL2 were set to 30100084; 30401461 Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170 Review for gene: ADPRHL2 was set to GREEN gene: ADPRHL2 was marked as current diagnostic