1. Genes and Genomic Entities
  2. PTBP1

PTBP1

polypyrimidine tract binding protein 1
OMIM: 600693, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red PTBP1 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Amber PTBP1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • NHS GMS
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q3_25_promote_green
    • Q3_25_NHS_review
    Amber PTBP1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q3_25_promote_green
    Amber PTBP1 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q3_25_promote_green
    Red PTBP1 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Other