Description
Inclusion criteria:
•	unexplained rod-cone dystrophy/ retinal dystrophy OR
•	at least two of the major diagnostic features associated with Bardet-Biedl syndrome:
-	Obesity
-	Polydacyly
-	Rod-cone dystrophy/ retinal dystrophy/ retinitis pigmentosa
-	Hypogenitalism 
-	Renal dysplasia

Exclusion criteria:
•	non-syndromic retinitis pigmentosa without features suggestive of rod-cone dystrophy/ cone-rod dystrophy
•	existing molecular confirmation of a diagnosis of Bardet-Biedl syndrome or another ciliopathy 

Prior Genetic Testing:
•	Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
•	Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
•	Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND
•	The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests: 
-	Genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray)
-	ARL6, ALMS1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, MKKS, MKS1 and  TTC8

These requirements will be kept under continual review during the main programme and may be subject to change.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Beth Hoskins (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

22 genes

22 reviewed, 14 green

List Gene Reviews Mode of inheritance Details
22 genes
Green Green List (high evidence)
ALMS1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Alstrom syndrome
  • Bardet-Biedl Syndrome
  • 203800
Green Green List (high evidence)
ARL6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Bardet‐Biedl syndrome 1, modifier of}
  • Bardet‐Biedl syndrome 3
  • Bardet-Biedl Syndrome
  • 268000
Green Green List (high evidence)
BBS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Bardet‐Biedl syndrome 1
  • Bardet‐Biedl syndrome 13
  • Bardet‐Biedl syndrome 11
  • 268000
Green Green List (high evidence)
BBS10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet‐Biedl syndrome 10
Green Green List (high evidence)
BBS12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet‐Biedl syndrome 12
Green Green List (high evidence)
BBS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet‐Biedl syndrome 2
Green Green List (high evidence)
BBS4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet‐Biedl syndrome 4
Green Green List (high evidence)
BBS5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Bardet‐Biedl syndrome 5
Green Green List (high evidence)
BBS7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Bardet‐Biedl syndrome 7
Green Green List (high evidence)
BBS9
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Bardet‐Biedl syndrome 9
Green Green List (high evidence)
MKKS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Bardet‐Biedl syndrome 6
  • 236700
Green Green List (high evidence)
MKS1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Meckel syndrome
  • Bardet‐Biedl syndrome 13
  • 249000
Green Green List (high evidence)
SDCCAG8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • SENIOR-LOKEN SYNDROME
  • Bardet-Biedl Syndrome
  • 613615
Green Green List (high evidence)
TTC8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Bardet‐Biedl syndrome 8
Red Red List (low evidence)
BBIP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Red Red List (low evidence)
CCDC28B
2 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Bardet‐Biedl syndrome, modifier of}
Red Red List (low evidence)
CEP290
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Bardet‐Biedl syndrome 14
  • 610189
  • 611134
  • 611755
  • 610188
Red Red List (low evidence)
IFT27
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Red Red List (low evidence)
LZTFL1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet‐Biedl syndrome 17
Red Red List (low evidence)
TMEM67
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • {Bardet‐Biedl syndrome 14, modifier of}
  • 216360
  • 607361
  • 613550
  • 610688
Red Red List (low evidence)
TRIM32
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Bardet‐Biedl syndrome 11
  • 254110
Red Red List (low evidence)
WDPCP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Bardet-Biedl Syndrome
  • 217085

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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