PanelApp
  1. Genes and Genomic Entities
  2. BBS5

BBS5

Bardet-Biedl syndrome 5
OMIM: 603650, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green BBS5 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 5, MIM#615983
    • MONDO:0014434

    Green BBS5 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.94

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 5, MIM#615983
    • MONDO:0014434

    Green BBS5 in Mendeliome


    Version 1.3512

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 5, MIM#615983
    • MONDO:0014434

    Green BBS5 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.296

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 5, MIM#615983
    • MONDO:0014434

    Green BBS5 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.45

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Bardet-Biedl syndrome 5, MIM#615983
    • MONDO:0014434

    Green BBS5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Bardet-Biedl syndrome 5, MIM#615983
    • MONDO:0014434

    Green BBS5 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • Bardet Biedl syndrome 5, 615983

    Red BBS5 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.60

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Red
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 5, 615983

    Green BBS5 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bardet-Biedl syndrome 5, 615983 (3)

    Green BBS5 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Green BBS5 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Bardet-Biedl syndrome 5, MIM#615983
    • MONDO:0014434

    Green BBS5 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.19

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 5, MIM#615983
    • MONDO:0014434

    Green BBS5 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bardet-Biedl syndrome 5, MIM#615983

    Red BBS5 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Bardet-Biedl syndrome 5, MIM#615983

    Green BBS5 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bardet-Biedl syndrome 5, MIM#615983
    • MONDO:0014434