BBS1

Bardet-Biedl syndrome 1
OMIM: 209901, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green BBS1 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 1, MIM# 209900

    Green BBS1 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.62

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 1, MIM# 209900

    Green BBS1 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 1, MIM# 209900

    Green BBS1 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.281

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 1, MIM# 209900

    Green BBS1 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.26

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 1, MIM# 209900

    Green BBS1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Bardet-Biedl syndrome 1 MONDO:0008854

    Green BBS1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • Bardet-Biedl syndrome 1 209900

    Green BBS1 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 1, 209900

    Green BBS1 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.156

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa

    Green BBS1 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
    • Bardet-Biedl syndrome 1, 209900 (3)

    Green BBS1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Bardet-Biedl syndrome

    Green BBS1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • KidGen_CilioNephronop v38.1.0
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 1 MONDO:0008854
    • Bardet-Biedl syndrome 1 OMIM:209900

    Green BBS1 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.13

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 1 OMIM:209900
    • MONDO:0008854

    Green BBS1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bardet-Biedl syndrome 1, MIM# 209900

    Red BBS1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Bardet-Biedl syndrome 1, MIM# 209900

    Green BBS1 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bardet-Biedl syndrome 1, 209900 (3)