1. Genes and Genomic Entities
  2. ENTPD1

ENTPD1

ectonucleoside triphosphate diphosphohydrolase 1
OMIM: 601752, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green ENTPD1 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Spastic paraplegia 64, autosomal recessive, OMIM:615683
    Green ENTPD1 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.316

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic paraplegia 64, autosomal recessive, OMIM:615683
    Green ENTPD1 in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic paraplegia 64, autosomal recessive, OMIM:615683
    Amber ENTPD1 in Adult onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Yorkshire and North East GLH
    • South West GLH
    Phenotypes
    • Spastic paraplegia 64, autosomal recessive, OMIM:615683
    Red ENTPD1 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Spastic paraplegia 64, autosomal recessive, OMIM:615683
    Red ENTPD1 in DDG2P


    Version 6.424
    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 Red
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    Green ENTPD1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Spastic paraplegia 64, autosomal recessive, OMIM:615683
    Green ENTPD1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Spastic paraplegia 64, autosomal recessive, OMIM:615683