Hereditary neuropathy or pain disorder
Gene: ADPRHL2EnsemblGeneIds (GRCh38): ENSG00000116863
EnsemblGeneIds (GRCh37): ENSG00000116863
OMIM: 610624, Gene2Phenotype
ADPRHL2 is in 6 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for ADPRHL2 is ADPRSCreated: 12 Mar 2025, 2:27 p.m. | Last Modified: 12 Mar 2025, 2:27 p.m.
Panel Version: 6.163
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
ADPRHL2 variants have been associated with Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (OMIM:618170) and as strong G2P gene for the same condition. At least eight variants have been reported in at least eight unrelated consanguineous families, where the parents were heterozygous for the causative variant (PMID: 30401461; 30100084). Supportive functional studies were presented for three of the variants (PMID: 30401461; 30100084).Created: 22 Oct 2024, 10:27 a.m. | Last Modified: 22 Oct 2024, 10:27 a.m.
Panel Version: 5.50
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- 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
- OMIM
- 610624
- Clinvar variants
- Variants in ADPRHL2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag new-gene-name tag was added to gene: ADPRHL2.
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: ADPRHL2. Tag Q3_24_NHS_review was removed from gene: ADPRHL2.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to ADPRHL2. Source Expert Review Green was added to ADPRHL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: ADPRHL2. Tag Q3_24_NHS_review tag was added to gene: ADPRHL2.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ADPRHL2 were changed from Neurodegeneration; childhood-onset; ataxia; seizure; axonal polyneuropathy 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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ADPRHL2 were set to 30401461: 30100084
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: adprhl2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: ADPRHL2 was added gene: ADPRHL2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADPRHL2 were set to 30401461: 30100084 Phenotypes for gene: ADPRHL2 were set to Neurodegeneration; childhood-onset; ataxia; seizure; axonal polyneuropathy Penetrance for gene: ADPRHL2 were set to Complete Review for gene: ADPRHL2 was set to GREEN