PanelApp
  1. Genes and Genomic Entities
  2. AMPD2

AMPD2

adenosine monophosphate deaminase 2
OMIM: 102771, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green AMPD2 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.91

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 9, MIM# 615809

Green AMPD2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Pontocerebellar hypoplasia, type 9, MIM# 615809

Green AMPD2 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 9, MIM#615809

Green AMPD2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pontocerebellar hypoplasia, type 9, MIM#615809

    Green AMPD2 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green AMPD2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Pontocerebellar hypoplasia, type 9, MIM#615809

    Red AMPD2 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.60

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Other
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pontocerebellar hypoplasia, type 9, 615809

    Red AMPD2 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.102

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 63 MIM#615686

    Red AMPD2 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.40

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI

    Green AMPD2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pontocerebellar hypoplasia, type 9, 615809 (3)

    Green AMPD2 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Pontocerebellar hypoplasia, type 9, MIM#615809

    Green AMPD2 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pontocerebellar hypoplasia, type 9, 615809 (3)

    Green AMPD2 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pontocerebellar hypoplasia, type 9, MIM#615809

    Green AMPD2 in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.8

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • pontocerebellar hypoplasia type 9 MONDO:0014351
    • Disorders of purine metabolism