1. Genes and Genomic Entities
  2. PTPN1

PTPN1

protein tyrosine phosphatase, non-receptor type 1
OMIM: 176885, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber PTPN1 in White matter disorders and cerebral calcification - childhood onset


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

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Encephalopathy, HP:0001298
    • dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215
    Tags
    • Q1_26_promote_green
    • Q1_26_expert_review
    Amber PTPN1 in Hereditary spastic paraplegia, childhood onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.7 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Encephalopathy, HP:0001298
    • dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215
    Tags
    • Q1_26_promote_green
    • Q1_26_expert_review
    Amber PTPN1 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 Amber
    • Literature
    Phenotypes
    • Encephalopathy, HP:0001298
    • dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215
    Tags
    • Q1_26_expert_review
    • Q1_26_promote_green
    Amber PTPN1 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Encephalopathy, HP:0001298
    • dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215
    Tags
    • Q1_26_promote_green
    • Q1_26_expert_review
    Amber PTPN1 in Autoinflammatory disorders


    Level 2: Immunology
    Version 3.20
    Latest signed off version: v3.16 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Encephalopathy, HP:0001298
    • dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215
    Tags
    • Q1_26_promote_green
    • Q1_26_expert_review