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Intellectual disability

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

Louise Daugherty (Genomics England Curator)

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: 3.0
Comment on list classification: New gene added by external reviewer as Amber. However, majority of people have seizures and only a minority have some intellectual component and this seems to later onset /developmental regression, the clinical picture is one of a stress-induced neurodegenerative disease of variable progression with developmental delay, intellectual disability, mild cerebellar atrophy and recurring seizures. However I am not sure if this gene is within the scope of the ID panel and as they all present with seizures so is better presented on Genetic Epilepsy Syndromes panel. So pending further cases/evidence will leave gene as Amber and added watchlist tag
Created: 31 Oct 2018, 5:38 p.m.
Created: 31 Oct 2018, 5:38 p.m.

Panel version: 3.0

Konstantinos Varvagiannis (Other)

I don't know

PMID 30100084 reports on 16 affected individuals from 6 different families, most of them consanguineous (and one possibly distantly-related). All subjects were homozygous for either truncating or missense variants. The authors suggest a similar phenotype of a stress-induced neurodegenerative disorder of variable progression, characterized developmental delay (for few prior to other disease manifestations, for most as a result developmental stagnation or loss of milestones), sudden severe onset of seizures, ataxia with cerebellar atrophy and intellectual disability. Western blot of fibroblasts demonstrated absence of the protein product (ARH3) in affected individuals but not in controls. Phenotype was rescued in Parg27.1 mutant flies after either forced expression of Parg or mis-expression of human ADPRHL2 (Drosophila melanogaster has a single Parg-like gene).

This is the first report of the disorder.
Created: 14 Aug 2018, 10:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental regression; Seizures; Ataxia; Intellectual disability

Publications

Created: 14 Aug 2018, 10:16 a.m.

Panel version: 2.379

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
watchlist new-gene-name
OMIM
610624
Clinvar variants
Variants in ADPRHL2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

1 Apr 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ADPRHL2 were changed from Developmental regression; Seizures; Ataxia; Intellectual disability 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: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ADPRHL2 were set to 30100084

18 Dec 2019, Gel status: 2

Added Tag

Louise Daugherty (Genomics England Curator)

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

31 Oct 2018, Gel status: 2

Added Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist tag was added to gene: ADPRHL2.

31 Oct 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

14 Aug 2018, Gel status: 0

Added New Source

Konstantinos Varvagiannis (Other)

ADPRHL2 was added to Intellectual disability panel. Sources: Literature

14 Aug 2018, Gel status: 0

Created

Konstantinos Varvagiannis (Other)

ADPRHL2 was created by Konstantinos Varvagiannis