Description
This panel is used for clinical indication 'R107 Bardet-Biedl syndrome' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R107 Bardet-Biedl syndrome'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.


The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/543/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (02/10/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

12 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Penny Clouston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Beth Hoskins (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Gabrielle Wheway (University of the West of England)

    Group: GeCIP domain
    Workplace: Research lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

24 Entities

24 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
24 Entitiess
Green Green List (high evidence)
ARL6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • ?Retinitis pigmentosa 55, 613575
  • {Bardet Biedl syndrome 1, modifier of}, 209900
  • Bardet Biedl syndrome 3, 600151
Tags
Green Green List (high evidence)
BBS1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Bardet-Biedl syndrome 1, 209900
Tags
Green Green List (high evidence)
BBS10
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Bardet Biedl syndrome 10, 615987
Tags
Green Green List (high evidence)
BBS12
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Bardet Biedl syndrome 12, 615989
Tags
Green Green List (high evidence)
BBS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Bardet-Biedl syndrome 2, 615981
Tags
Green Green List (high evidence)
BBS4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Bardet-Biedl syndrome 4, 615982
Tags
Green Green List (high evidence)
BBS5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Bardet Biedl syndrome 5, 615983
Tags
Green Green List (high evidence)
BBS7
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Bardet-Biedl syndrome 7, 615984
Tags
Green Green List (high evidence)
BBS9
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Bardet Biedl syndrome 9, 615986
Tags
Green Green List (high evidence)
LZTFL1
6 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Bardet-Biedl syndrome 17, 615994
Tags
Green Green List (high evidence)
MKKS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Bardet-Biedl syndrome 6, 605231
  • McKusick-Kaufman syndrome, 236700
Tags
Green Green List (high evidence)
MKS1
7 reviews
4 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Bardet-Biedl syndrome 13, 615990
  • Meckel syndrome 1, 249000
  • Joubert syndrome 28, 617121
Tags
Green Green List (high evidence)
SDCCAG8
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Senior-Loken syndrome 7, 613615
  • Bardet-Biedl syndrome 16, 615993
Tags
Green Green List (high evidence)
TMEM67
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • {Bardet-Biedl syndrome 14, modifier of}, 615991
Tags
Green Green List (high evidence)
TTC8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Bardet-Biedl syndrome 8, 615985
Tags
Amber Amber List (moderate evidence)
IFT27
5 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Bardet-Biedl syndrome 19, 615996
Tags
Amber Amber List (moderate evidence)
WDPCP
5 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Other
Phenotypes
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
  • ?Bardet-Biedl syndrome 15, 615992
Tags
Red Red List (low evidence)
BBIP1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Bardet-Biedl syndrome 18, 615995
Tags
Red Red List (low evidence)
C8orf37
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome 21, 617406
  • Cone-rod dystrophy 16
  • Retinitis pigmentosa 64, 614500
Tags
Red Red List (low evidence)
CCDC28B
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
Tags
Red Red List (low evidence)
CEP290
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Senior-Loken syndrome 6, 610189
  • Leber congenital amaurosis 10, 611755
  • Joubert syndrome 5, 610188
  • Bardet-Biedl syndrome 14, 615991
  • Meckel syndrome 4, 611134
Tags
Red Red List (low evidence)
IFT74
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Bardet-Biedl syndrome 20, 617119
Tags
Red Red List (low evidence)
TRIM32
4 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110
  • ?Bardet-Biedl syndrome 11, 615988
Tags
No list No list
ALMS1
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Alstrom syndrome, 203800
  • Bardet-Biedl Syndrome
Tags

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