PanelApp (stage)
  1. Panels
  2. Bardet Biedl syndrome
Description
This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.

Bardet Biedl syndrome is a multisystem ciliopathy characterised by a combination of obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities.

Many ciliopathies present with overlapping features, please refer to the Ciliopathy panel if broader spectrum of conditions are being considered.
Panel Activity

4 reviewers

  • Elena Savva (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

26 Entities

26 reviewed, 21 green

List Entity Reviews Mode of inheritance Details
26 Entitiess
Green Green List (high evidence)
ALMS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alstrom syndrome, MIM# 203800
Tags
Green Green List (high evidence)
ARL6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 3, MIM# 600151
Tags
Green Green List (high evidence)
BBS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 1, MIM# 209900
Tags
Green Green List (high evidence)
BBS10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 10, MIM# 615987
Tags
Green Green List (high evidence)
BBS12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 12, MIM# 615989
Tags
Green Green List (high evidence)
BBS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 2, MIM# 615981
Tags
Green Green List (high evidence)
BBS4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 4, MIM#615982
  • MONDO:0014433
Tags
Green Green List (high evidence)
BBS5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 5, MIM#615983
  • MONDO:0014434
Tags
Green Green List (high evidence)
BBS7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 7, MIM# 615984
  • MONDO:0014435
Tags
Green Green List (high evidence)
BBS9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 9, MIM#615986
  • MONDO:0014437
Tags
Green Green List (high evidence)
CEP164
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
CEP290
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 14, MIM# 615991
Tags
Green Green List (high evidence)
IFT172
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 20, MIM# 619471
Tags
Green Green List (high evidence)
IFT27
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 19, MIM#615996
Tags
Green Green List (high evidence)
IFT74
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 20, MIM# 617119
Tags
Green Green List (high evidence)
LZTFL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 17 (MIM#615994)
Tags
Green Green List (high evidence)
MKKS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 6 (MIM#605231)
Tags
Green Green List (high evidence)
MKS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 13, MIM# 615990
  • MONDO:0014441
Tags
Green Green List (high evidence)
SCAPER
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
SDCCAG8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 16, MIM# 615993
  • MONDO:0014444
Tags
Green Green List (high evidence)
TTC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 8, MIM# 615985
Tags
Amber Amber List (moderate evidence)
BBIP1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Bardet-Biedl syndrome 18, MIM#615995
Tags
Amber Amber List (moderate evidence)
C8orf37
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Bardet-Biedl syndrome 21, MIM#617406
Tags
Red Red List (low evidence)
CEP19
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Bardet Biedl syndrome
Tags
Red Red List (low evidence)
TRIM32
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 11, MIM# 615988
Tags
Red Red List (low evidence)
WDPCP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992
Tags

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