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DDG2P

Gene: ADPRHL2

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 30388405;30401461).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome;Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy
Created: 1 Apr 2021, 1:56 p.m. | Last Modified: 1 Apr 2021, 1:56 p.m.
Panel Version: 2.22
Created: 1 Apr 2021, 1:56 p.m.
Last Modified: 1 Apr 2021, 1:56 p.m.
Panel version: 2.22

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ADPRHL2 is ADPRS
Created: 18 Dec 2019, 4:48 p.m. | Last Modified: 18 Dec 2019, 4:48 p.m.
Panel Version: 2.0
Created: 18 Dec 2019, 4:48 p.m.
Last Modified: 18 Dec 2019, 4:48 p.m.
Panel version: 2.0

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Second new gene:disorder association added to DDG2P in March 2019: Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Created: 22 Apr 2019, 7:34 p.m.
Created: 22 Apr 2019, 7:34 p.m.

Panel version: 1.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
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

4 Oct 2023, Gel status: 3

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ADPRHL2. Publications for gene: ADPRHL2 were updated from 30388405; 30401461 to 30401461; 30388405 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Apr 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ADPRHL2 were changed from Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy 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: 2

Added Tag

Louise Daugherty (Genomics England Curator)

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

22 Apr 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ADPRHL2 was added gene: ADPRHL2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADPRHL2 were set to 30388405; 30401461 Phenotypes for gene: ADPRHL2 were set to Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy