PTDSS1

phosphatidylserine synthase 1
OMIM: 612792, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green PTDSS1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
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
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Lenz-Majewski hyperostotic dwarfism 151050
    Green PTDSS1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
    Green PTDSS1 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050
    Red PTDSS1 in Clefting


    Level 2: Musculoskeletal
    Version 6.23
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Lenz-Majewski hyperostotic dwarfism, 151050
    • progressive sclerosis and hyperostosis of skull, vertebra and tubular bones
    • growth restriction
    • broad prominent forehead
    • delayed closure of the fontanelles
    • brachydactyly of fingers and toes
    • proximal symphalangism cutis laxa
    • dental enamel hypoplasia
    • choanal atresia
    Green PTDSS1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM