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 Ataxia and cerebellar anomalies - narrow panel


Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
    • pontocerebellar hypoplasia type 9, 615809
    • Pontocerebellar hypoplasia 9 (#615809)
    Green AMPD2 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Pontocerebellar hypoplasia 9 (#615809)
    • Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
    Red AMPD2 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.311

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Pontocerebellar hypolplasia (biallelic)
    • Hereditary Spastic Paraplegia?
    Green AMPD2 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Literature
    • Other
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • pontocerebellar hypoplasia type 9, 615809
    Amber AMPD2 in Childhood onset hereditary spastic paraplegia


    Version 4.43
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Amber
    • NHS GMS
    • London North GLH
    • Expert list
    Phenotypes
    • ?Spastic paraplegia 63, 615686, AR
    • Pontocerebellar hypoplasia, type 9, 615809, AR
    Amber AMPD2 in Adult onset hereditary spastic paraplegia


    Version 3.21
    Latest signed off version: v3.14 (31 Jul 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • ?Spastic paraplegia 63, 615686, AR
    • Hereditary Spastic Paraplegia?
    • Pontocerebellar hypoplasia, type 9, 615809, AR
    • Pontocerebellar hypolplasia (biallelic)
    Red AMPD2 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
    • Hereditary Spastic Paraplegia?
    • Pontocerebellar hypoplasia 9 (#615809)
    • Pontocerebellar hypolplasia (biallelic)
    Green AMPD2 in Fetal anomalies


    Version 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA
    Green AMPD2 in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA
    Green AMPD2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pontocerebellar hypoplasia, type 9 615809
    Green AMPD2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA
    • Pontocerebellar hypoplasia, type 9, 615809
    Amber AMPD2 in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Pontocerebellar hyoplasia 9 OMIM:615809
    • pontocerebellar hypoplasia type 9 MONDO:0014351
    Red AMPD2 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green AMPD2 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia, type 9, 615809
    • ?Spastic paraplegia 63, 615686