SMPD1

sphingomyelin phosphodiesterase 1
OMIM: 607608, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red SMPD1 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.0

Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Niemann-Pick disease

    Green SMPD1 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.325

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Niemann-Pick disease, type A, MIM# 257200
    • MONDO:0009756

    Green SMPD1 in Mendeliome


    Version 1.2656

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Niemann-Pick disease, type A, MIM# 257200
    • MONDO:0009756
    • Niemann-Pick disease, type B, MIM# 607616
    • MONDO:0011871

    Green SMPD1 in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 0.87

    review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SMPD1 in Lysosomal Storage Disorder


    Level 2: Metabolic conditions
    Version 1.17

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Niemann-Pick disease, type A, MIM# 257200
    • MONDO:0009756
    • Niemann-Pick disease, type B, MIM# 607616
    • MONDO:0011871

    Green SMPD1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.174

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Niemann-Pick disease, type A, MIM# 257200
    • MONDO:0009756

    Green SMPD1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Niemann-Pick disease, type A, 257200 (3)

    Green SMPD1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Niemann-Pick disease, type A
    • Niemann-Pick disease, type B

    Green SMPD1 in Fetal anomalies


    Version 1.370

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Niemann-Pick disease, type A, MIM# 257200
    • MONDO:0009756

    Green SMPD1 in Prepair 1000+


    Level 2: Screening
    Version 2.13

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Niemann-Pick disease, type A, 257200
    • Niemann-Pick disease, type B, 607616

    Green SMPD1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.121

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Niemann-Pick disease, type A, MIM# 257200
    • Niemann-Pick disease, type B, MIM# 607616
    Tags
    • treatable
    • metabolic

    Green SMPD1 in Prepair 500+


    Level 2: Screening
    Version 2.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Niemann-Pick disease, type A, MIM#257200
    • Niemann-Pick disease, type B, MIM#607616