1. Genes and Genomic Entities
  2. AGTPBP1

AGTPBP1

ATP/GTP binding protein 1
OMIM: 606830, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green AGTPBP1 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.72
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276
    Green AGTPBP1 in DDG2P


    Version 6.427
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276
    Green AGTPBP1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
    • Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy
    Green AGTPBP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.325
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276
    Green AGTPBP1 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.43
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276