Description
This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

The content of this panel is overseen by NHS Genomic Medicine Service governance.

This panel was originally developed as part of the ‘Rare multisystem ciliopathy disorders’ panel (https://panelapp.genomicsengland.co.uk/panels/150/) for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel will also be a constituent panel of a new rare multisystem ciliopathy disorders superpanel under development. Changes made to this panel will automatically be updated in the relevant super panel(s).

12 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • 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

  • Andrea Nemeth (University of Oxford)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • 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

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

60 Entities

60 reviewed, 30 green

List Entity Reviews Mode of inheritance Details
60 Entitiess
Green Green List (high evidence)
C21orf2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (JATD)
  • Jeune Syndrome
  • Spondylometaphyseal dysplasia, axial, 602271
  • Retinal dystrophy with macular staphyloma, 617547
Tags
Green Green List (high evidence)
C2CD3
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • short-rib polydactyly syndromes (SRPS
  • MIM208500)
  • MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
  • ?Orofaciodigital syndrome XIV, 615948
  • Orofaciodigital syndromes (OFDS, MIM 311200)
Tags
Green Green List (high evidence)
CEP120
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly
  • Jeune syndrome
  • Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
  • Short-rib thoracic dysplasia 13 with or without polydactyly, 616300
Tags
Green Green List (high evidence)
DHCR7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Tags
Green Green List (high evidence)
DYNC2H1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly
  • Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
  • Jeune syndrome
  • Short-rib thoracic dysplasia 3 with or without polydactyly, 613091
Tags
Green Green List (high evidence)
DYNC2LI1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Short-rib throacic dysplasia 15 with polydactyly, 617088
Tags
Green Green List (high evidence)
EVC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • Weyers acrodental dysostosis, 193530
Tags
Green Green List (high evidence)
EVC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • Weyers acrofacial dysostosis, 193530
Tags
Green Green List (high evidence)
GLI3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
Phenotypes
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Tags
Green Green List (high evidence)
ICK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • short-rib thoracic dysplasia with polydactyly (SRTD)
  • Endocrine-cerebroosteodysplasia, 612651
  • ECO
Tags
  • new-gene-name
Green Green List (high evidence)
IFT122
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cranioectodermal dysplasia
  • Cranioectodermal dysplasia 1, 218330
Tags
Green Green List (high evidence)
IFT140
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Saldino-Mainzer syndrome
  • Jeune syndrome
  • Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
  • Mainzer-Saldino Syndrome
  • Short-rib thoracic dysplasia 9 with or without polydactyly
Tags
Green Green List (high evidence)
IFT172
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Retinitis pigmentosa 71, 616394
  • Short-rib thoracic dysplasia 10 with or without polydactyly
  • Saldino-Mainzer syndrome
  • Jeune syndrome
  • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
Tags
Green Green List (high evidence)
IFT43
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cranioectodermal dysplasia 3, 614099
  • Sensenbrenner syndrome
  • Short-rib thoracic dysplasia 18 with polydactyly, 617866
Tags
Green Green List (high evidence)
IFT52
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Short-rib thoracic dysplasia 16 with or without polydactyly, 617102
Tags
Green Green List (high evidence)
IFT80
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly
  • Jeune syndrome
  • Short-rib thoracic dysplasia 2 with or without polydactyly, 611263
Tags
Green Green List (high evidence)
IFT81
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly, 617895
Tags
Green Green List (high evidence)
KIAA0753
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Orofaciodigital syndrome XV 617127
  • Joubert syndrome
  • Short-rib skeletal dysplasia
Tags
Green Green List (high evidence)
LBR
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
Phenotypes
  • Skeletal Ciliopathies
  • Greenberg skeletal dysplasia, 215140
Tags
Green Green List (high evidence)
NEK1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly
  • Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
Tags
Green Green List (high evidence)
PIK3C2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculoskeletodental syndrome 618440
Tags
Green Green List (high evidence)
PMM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green Green List (high evidence)
SBDS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
Phenotypes
  • Skeletal Ciliopathies
Tags
Green Green List (high evidence)
TCTEX1D2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
  • JATD
  • Jeune asphyxiating thoracic dystrophy
Tags
Green Green List (high evidence)
TTC21B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Orphanet
  • Other
  • UKGTN
Phenotypes
  • Nephronophthisis 12, 613820
  • Short-rib thoracic dysplasia 4 with or without polydactyly
  • Jeune syndrome
  • Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
  • Nephronophthisis
Tags
Green Green List (high evidence)
WDR19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 13, 614377
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly
  • Senior-Loken syndrome 8, 616307
  • Cranioectodermal dysplasia
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
  • Jeune syndrome
  • Senior-Loken syndrome
  • ?Cranioectodermal dysplasia 4, 614378
  • Nephronophthisis
Tags
Green Green List (high evidence)
WDR34
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly
  • Jeune syndrome
  • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
Tags
Green Green List (high evidence)
WDR35
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cranioectodermal dysplasia 2, 613610
  • Cranioectodermal dysplasia
  • Short-rib thoracic dysplasia 7 with or without polydactyly
  • Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Tags
Green Green List (high evidence)
WDR60
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
  • Short-rib thoracic dysplasia 8 with or without polydactyly
  • Jeune syndrome
  • SHORT-RIB POLYDACTYLY
Tags
Green Green List (high evidence)
ZSWIM6
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acromelic frontonasal dysostosis 603671
Tags
Amber Amber List (moderate evidence)
FAM149B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome
  • oral-facial-digital syndrome
  • OFD VI
Tags
Amber Amber List (moderate evidence)
SUFU
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Joubert syndrome 32, 617757
Tags
Red Red List (low evidence)
B9D1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Meckel syndrome 9, 614209
  • ciliopathies
  • Meckel syndrome
  • Joubert syndrome 27
Tags
Red Red List (low evidence)
TAPT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Tags
Red Red List (low evidence)
TBC1D32
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)
Tags
No list No list
ARL6
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Removed
Phenotypes
  • {Bardet Biedl syndrome 1, modifier of}
  • Bardet-Biedl Syndrome
  • 268000
  • Bardet Biedl syndrome 3
Tags
No list No list
BBIP1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 18, 615995
Tags
No list No list
BBS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Removed
Phenotypes
  • Bardet Biedl syndrome 13
  • 268000
  • Bardet Biedl syndrome 1
  • Bardet Biedl syndrome 11
Tags
No list No list
BBS10
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Removed
Phenotypes
  • Bardet Biedl syndrome 10
Tags
No list No list
BBS12
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Removed
Phenotypes
  • Bardet Biedl syndrome 12
Tags
No list No list
BBS2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Removed
Phenotypes
  • Bardet Biedl syndrome 2
Tags
No list No list
BBS4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Removed
Phenotypes
  • Bardet Biedl syndrome 4
Tags
No list No list
BBS5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Removed
Phenotypes
  • Bardet Biedl syndrome 5
Tags
No list No list
BBS7
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Removed
Phenotypes
  • Bardet Biedl syndrome 7
Tags
No list No list
BBS9
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Removed
Phenotypes
  • Bardet Biedl syndrome 9
Tags
No list No list
C8orf37
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Bardet-Biedl syndrome 21, 617406
Tags
No list No list
CCDC28B
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ciliopathies
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
Tags
No list No list
CENPF
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Orphanet
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stromme syndrome, 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
No list No list
DDX59
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
No list No list
IFT27
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 19, 615996
Tags
No list No list
IFT74
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • ?Bardet-Biedl syndrome 20, 617119
Tags
No list No list
LZTFL1
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 17, 615994
Tags
No list No list
MKKS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Removed
Phenotypes
  • Bardet Biedl syndrome 6
  • 236700
Tags
No list No list
MKS1
6 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Removed
  • Orphanet
  • Other
Phenotypes
  • occipital encephalocele
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • Joubert syndrome 28
  • 249000
  • polydactyly
  • polycystic kidneys
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • renal fibrosis
Tags
No list No list
SCLT1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Senior-L ken Syndrome
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX
Tags
No list No list
SDCCAG8
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Removed
  • Orphanet
Phenotypes
  • SENIOR-LOKEN SYNDROME
  • Bardet-Biedl Syndrome
  • 613615
  • Senior-Loken syndrome
Tags
No list No list
TRIM32
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 11, 615988
  • Muscular dystrophy, limb-girdle, type 2H, 254110
Tags
No list No list
TTC8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Removed
Phenotypes
  • Bardet Biedl syndrome 8
Tags
No list No list
TXNDC15
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Removed
Phenotypes
  • MGS
  • Meckel-Gruber syndrome
Tags
No list No list
WDPCP
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Removed
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 15, 615992
  • Meckel syndrome
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Tags

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