DPYSL5

dihydropyrimidinase like 5
OMIM: 608383, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green DPYSL5 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.23
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Ritscher-Schinzel syndrome 4, OMIM:619435
    • Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
    Green DPYSL5 in Malformations of cortical development


    Level 2: Neurology
    Version 8.7
    Latest signed off version: v8.6 (12 Aug 2026)

    Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Ritscher-Schinzel syndrome 4, OMIM:619435
    • Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
    Green DPYSL5 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Ritscher-Schinzel syndrome 4, OMIM:619435
    Green DPYSL5 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DPYSL5-related developmental disorder (monoallelic)
    Green DPYSL5 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.7
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ritscher-Schinzel syndrome 4, OMIM:619435
    • Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities