PanelApp (stage)
  1. Genes and Genomic Entities
  2. SBDS

SBDS

SBDS, ribosome maturation factor
OMIM: 607444, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green SBDS in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green SBDS in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Shwachman-Diamond syndrome, MIM# 260400

Amber SBDS in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.54

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Shwachman-Diamond syndrome, MIM# 260400

Green SBDS in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Shwachman-Diamond syndrome, MIM# 260400

Green SBDS in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Shwachman-Diamond syndrome, MIM# 260400

Red SBDS in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Shwachman-Diamond syndrome, MIM# 260400

Green SBDS in Phagocyte Defects


Level 2: Immunological disorders
Version 1.29

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Shwachman-Diamond syndrome, MIM# 260400

    Red SBDS in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Shwachman-Diamond syndrome, MIM#260400

    Green SBDS in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review
    • UKGTN
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Shwachman-Diamond syndrome 260400
    • Shwachman-Diamond syndrome 260400

    Red SBDS in CGC_86


    Version 0.2

    		review Other
    Sources
    • CGC_86
    Phenotypes
    • Shwachman syndrome

    Red SBDS in NCGC


    Version 0.2

    		review Other
    Sources
    • NCGC
    Phenotypes
    • Shwachman syndrome

    Red SBDS in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Shwachman syndrome

    Green SBDS 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
    • Shwachman-Diamond syndrome, 260400 (3)

    Green SBDS in Metaphyseal dysplasias

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.5

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Shwachman-Diamond syndrome 260400
    • Shwachman-Diamond syndrome 260400

    Green SBDS in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Shwachman-Bodian-Diamond syndrome

    Green SBDS in Red cell disorders


    Level 2: Haematological disorders
    Version 1.24

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • Victorian Clinical Genetics Services
    Phenotypes
    • Shwachman-Diamond syndrome, MIM# 260400

    Green SBDS in Growth failure


    Version 1.76

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Shwachman-Diamond syndrome 1, MIM# 260400

    Green SBDS in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Shwachman-Diamond syndrome, MIM#260400

    Green SBDS in IBMDx study


    Version 0.25

    		review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Shwachman-Diamond syndrome, MIM# 260400

    Green SBDS in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Shwachman-Diamond syndrome, 260400 (3)

    Green SBDS in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Shwachman-Diamond syndrome, MIM# 260400
    Tags
    • treatable
    • haematological
    • gastrointestinal