ADPRS

ADP-ribosylserine hydrolase
OMIM: 610624, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ADPRS in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170
Tags
  • new gene name

Green ADPRS in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170)
Tags
  • new gene name

Green ADPRS in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM# 618170
Tags
  • new gene name

Green ADPRS in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170
Tags
  • new gene name

Green ADPRS in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170)
Tags
  • new gene name

Red ADPRS in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170
Tags
  • new gene name

Green ADPRS in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170
Tags
  • new gene name