1. Genes and Genomic Entities
  2. PTDSS1

PTDSS1

phosphatidylserine synthase 1
OMIM: 612792, Gene2Phenotype

6 panels

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

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    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
    Green PTDSS1 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lenz-Majewski hyperostotic dwarfism, 151050