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Hereditary Neuropathy - complex

Gene: ADPRHL2

Green List (high evidence)
ADPRHL2 (ADP-ribosylhydrolase like 2)
EnsemblGeneIds (GRCh38): ENSG00000116863
EnsemblGeneIds (GRCh37): ENSG00000116863
OMIM: 610624, Gene2Phenotype
ADPRHL2 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: New HGNC approved name is ADPRS.
Created: 12 Sep 2020, 1:43 a.m. | Last Modified: 12 Sep 2020, 1:43 a.m.
Panel Version: 0.77
Created: 12 Sep 2020, 1:43 a.m.
Last Modified: 12 Sep 2020, 1:43 a.m.
Panel version: 0.77

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Peripheral (sensori-)motor axonal neuropathy is a feature of this progressive neurodegenerative disorder. >5 families have been reported.
Sources: Expert Review
Created: 6 Jul 2020, 3:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 6 Jul 2020, 3:22 a.m.

Panel version: 0.67

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170)
Tags
new gene name
OMIM
610624
Clinvar variants
Variants in ADPRHL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adprhl2 has been classified as Green List (High Evidence).

12 Sep 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adprhl2 has been classified as Green List (High Evidence).

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adprhl2 has been classified as Green List (High Evidence).

6 Jul 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: ADPRHL2 was added gene: ADPRHL2 was added to Hereditary Neuropathy - complex. Sources: Expert Review 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