Description
This panel was created to combine congenital malformations caused by ciliopathies:
- Bardet-Biedl Syndrome (11046)
- Joubert syndrome (36478)
- Rare multisystem ciliopathy disorders (36488)

See the individual eligibility criteria for each for more details regarding the inclusion and exclusion criteria here: https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/ 

Gene lists from Dr Thomas Cullup (Great Ormond Street Hospital) and Dr Hannah Mitchison (UCL GOS Institute of Child Health) were added to this panel. In addition, reviews from the individual Bardet-Biedl Syndrome and Joubert syndrome gene panels have been transferred to this panel. 

Additional genes for the following disorders were added from the four original sources and Orphanet: 
- Alström syndrome
- Bardet-Biedl syndrome
- Cranioectodermal dysplasia
- Ellis Van Creveld syndrome
- Jeune syndrome
- Joubert syndrome with oculorenal defect
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- Meckel syndrome
- Nephronophthisis
- Renal-hepatic-pancreatic dysplasia
- RHYNS syndrome
- Saldino-Mainzer syndrome
- Senior-Boichis syndrome
- Senior-Loken syndrome

11 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

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • 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

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

194 genes

192 reviewed, 77 green

List Gene Reviews Mode of inheritance Details
194 genes
Green Green List (high evidence)
AHI1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Eligibility statement prior genetic testing
  • Other
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Joubert syndrome-3.
  • Joubert syndrome 3
Green Green List (high evidence)
ALMS1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • UKGTN
  • Expert Review Green
  • Expert list
Phenotypes
  • Alstrom syndrome
  • Bardet-Biedl Syndrome
  • 203800
  • Alstrom Syndrome
Green Green List (high evidence)
ANKS6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
  • Nephronophthisis 16, 615382
  • Nephronophthisis
Green Green List (high evidence)
ARL13B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 8
Green Green List (high evidence)
ARL6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • {Bardet‐Biedl syndrome 1, modifier of}
  • Bardet‐Biedl syndrome 3
  • Bardet-Biedl Syndrome
  • 268000
Green Green List (high evidence)
B9D2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 10, 614175
  • ciliopathies
  • Meckel syndrome
  • Joubert syndrome
Green Green List (high evidence)
BBS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
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
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet‐Biedl syndrome 10
Green Green List (high evidence)
BBS12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Bardet‐Biedl syndrome 12
Green Green List (high evidence)
BBS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet‐Biedl syndrome 2
Green Green List (high evidence)
BBS4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet‐Biedl syndrome 4
Tags
  • monogenic-polygenic
Green Green List (high evidence)
BBS5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet‐Biedl syndrome 5
Green Green List (high evidence)
BBS7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet‐Biedl syndrome 7
Green Green List (high evidence)
BBS9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Eligibility statement prior genetic testing
Phenotypes
  • Bardet‐Biedl syndrome 9
Green Green List (high evidence)
C2CD3
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • ?Orofaciodigital syndrome XIV, 615948
  • short-rib polydactyly syndromes (SRPS
  • MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
  • MIM208500)
  • Orofaciodigital syndromes (OFDS, MIM 311200)
Green Green List (high evidence)
C5orf42
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Other
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Oral-facial-digital syndrome type VI
  • Joubert syndrome 17
Tags
  • new-gene-name
Green Green List (high evidence)
CC2D2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Other
  • Orphanet
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 9
  • Meckel syndrome 6
  • COACH syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
Green Green List (high evidence)
CENPF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stromme syndrome, 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Green Green List (high evidence)
CEP104
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
Green Green List (high evidence)
CEP164
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Nephronophthisis 15, 614845
  • ciliopathies
  • Senior-Loken syndrome
  • Nephronophthisis 15
Green Green List (high evidence)
CEP290
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Eligibility statement prior genetic testing
  • Other
  • Orphanet
  • Expert Review Green
Phenotypes
  • 610189
  • 611134
  • 611755
  • 610188
  • Joubert syndrome 5
  • Meckel syndrome 4
  • Senior-Loken syndrome 6
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
  • Senior-Loken syndrome
Green Green List (high evidence)
CEP41
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 15
Green Green List (high evidence)
CEP83
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Orphanet
  • UKGTN
Phenotypes
  • Nephronophthisis 18 615862
Green Green List (high evidence)
CFAP43
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 19 617592
Green Green List (high evidence)
CRB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Green Green List (high evidence)
CSPP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Orphanet
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome
  • Meckel-Gruber syndrome
  • Joubert syndrome 21
  • Meckel syndrome
Green Green List (high evidence)
DHCR7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Green Green List (high evidence)
DNAH1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 18 617576
Green Green List (high evidence)
DYNC2H1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, 613091
  • Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
  • Jeune syndrome
  • Short-rib thoracic dysplasia 3 with or without polydactyly
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
Green Green List (high evidence)
EVC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • Weyers acrodental dysostosis, 193530
Green Green List (high evidence)
EVC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • Weyers acrofacial dysostosis, 193530
Green Green List (high evidence)
GLI3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
Phenotypes
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Green Green List (high evidence)
HNF1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Green Green List (high evidence)
HYLS1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Hydrolethalus syndrome, 236680
  • Joubert syndrome
Green Green List (high evidence)
IFT122
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Cranioectodermal dysplasia 1, 218330
  • Cranioectodermal dysplasia
Green Green List (high evidence)
IFT140
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Orphanet
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
  • Jeune syndrome
  • Saldino-Mainzer syndrome
  • Short-rib thoracic dysplasia 9 with or without polydactyly
  • Mainzer-Saldino Syndrome
Green Green List (high evidence)
IFT172
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Orphanet
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Retinitis pigmentosa 71, 616394
  • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
  • Jeune syndrome
  • Saldino-Mainzer syndrome
  • Short-rib thoracic dysplasia 10 with or without polydactyly
Green Green List (high evidence)
IFT80
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly, 611263
  • Jeune syndrome
  • Short-rib thoracic dysplasia 2 with or without polydactyly
Green Green List (high evidence)
INPP5E
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 1
Green Green List (high evidence)
INVS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Nephronophthisis 2, infantile, 602088
  • Nephronophthisis
  • Senior-Loken syndrome
Green Green List (high evidence)
IQCB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Senior-Loken syndrome 5, 609254
  • Senior-Loken syndrome
Green Green List (high evidence)
KIAA0586
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Short-rib dysplasia 14 with polydactyly
  • Short-rib thoracic dysplasia 14 with polydactyly
  • Joubert syndrome 23
Green Green List (high evidence)
KIF7
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Joubert syndrome 12 200990
  • Acrocallosal syndrome 200990
Green Green List (high evidence)
MAPKBP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephronophthisis 20 617271
Green Green List (high evidence)
MKKS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet‐Biedl syndrome 6
  • 236700
Green Green List (high evidence)
MKS1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Eligibility statement prior genetic testing
  • Other
  • Orphanet
  • Expert Review Green
Phenotypes
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • Bardet-Biedl syndrome
  • occipital encephalocele
  • polycystic kidneys
  • renal fibrosis
  • polydactyly
  • Joubert syndrome
  • Meckel-Gruber syndrome
  • 249000
  • Joubert syndrome 28
Green Green List (high evidence)
NEK1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Other
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
  • Short-rib thoracic dysplasia 6 with or without polydactyly
Green Green List (high evidence)
NPHP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Nephronophthisis
  • Joubert syndrome 4
  • 609583 Nephronophthisis 1, juvenile
  • 256100 Senior-Loken syndrome-1, 266900
  • Senior-Loken syndrome
Green Green List (high evidence)
NPHP3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Meckel syndrome 7, 267010
  • Nephronophthisis 3, 604387
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Nephronophthisis
  • Renal-hepatic-pancreatic dysplasia
  • Senior-Loken syndrome
Green Green List (high evidence)
NPHP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Nephronophthisis 4, 606966
  • Senior-Loken syndrome 4, 606996
  • Nephronophthisis
  • Senior-Loken syndrome
Green Green List (high evidence)
OFD1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 10
  • X-linked Joubert syndrome
  • Orofaciodigital syndrome I
Green Green List (high evidence)
PKD1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
  • UKGTN
Phenotypes
  • Polycystic kidney disease, adult type I, 173900
Green Green List (high evidence)
PKD2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Polycystic kidney disease 2, 613095
Green Green List (high evidence)
PKHD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polycystic kidney and hepatic disease, 263200
Green Green List (high evidence)
PMM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Green Green List (high evidence)
RPGRIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Orphanet
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome
  • Meckel-Gruber syndrome
  • Joubert syndrome 7
  • Meckel syndrome 5
  • Meckel syndrome
Green Green List (high evidence)
SBDS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
Phenotypes
  • Skeletal Ciliopathies
Green Green List (high evidence)
SDCCAG8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
Phenotypes
  • SENIOR-LOKEN SYNDROME
  • Bardet-Biedl Syndrome
  • 613615
  • Senior-Loken syndrome
Green Green List (high evidence)
TCTN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome
Green Green List (high evidence)
TCTN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Other
  • Orphanet
  • Expert Review Green
Phenotypes
  • Joubert syndrome, Meckel-Gruber syndrome
  • Meckel syndrome
  • Joubert syndrome 24
Green Green List (high evidence)
TCTN3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
  • Expert list
Phenotypes
  • Orofaciodigital syndrome IV
  • Joubert syndrome
  • Meckel-Gruber
  • Mohr-Majewski syndrome
  • Joubert syndrome 18
Green Green List (high evidence)
TMEM107
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Joubert syndrome 29 617562
  • Meckel syndrome 13 617562
  • Orofaciodigital syndrome XVI 617563
Green Green List (high evidence)
TMEM138
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
  • Orphanet
Phenotypes
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 16
Green Green List (high evidence)
TMEM216
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Orphanet
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome: Meckel-Gruber syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
  • Joubert syndrome 2
Green Green List (high evidence)
TMEM231
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Orphanet
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Joubert syndrome 20, 614970
  • Meckel syndrome 11, 615397
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
  • Joubert syndrome 20
Green Green List (high evidence)
TMEM237
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Orphanet
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 14
Green Green List (high evidence)
TMEM67
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Other
  • Orphanet
  • Expert Review Green
  • Expert list
Phenotypes
  • Meckel-Gruber syndrome
  • Joubert syndrome
  • COACH syndrome
  • nephronophthisis
  • ?Bardet-Biedl syndrome?
  • 216360
  • 607361
  • 613550
  • 610688
  • Meckel syndrome
  • Senior-Boichis syndrome
  • Nephronophthisis 11
  • Joubert syndrome 6
Green Green List (high evidence)
TRAF3IP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
Phenotypes
  • Senior-Loken syndrome 9 616629
Green Green List (high evidence)
TTC21B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Nephronophthisis
  • Nephronophthisis 12, 613820
  • Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
  • Jeune syndrome
  • Short-rib thoracic dysplasia 4 with or without polydactyly
Green Green List (high evidence)
TTC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet‐Biedl syndrome 8
Green Green List (high evidence)
VPS13B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cohen syndrome, 216550
  • COHEN SYNDROME
Green Green List (high evidence)
WDPCP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • ?Bardet-Biedl syndrome 15, 615992
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
  • Meckel syndrome
Green Green List (high evidence)
WDR19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Orphanet
  • UKGTN
Phenotypes
  • Nephronophthisis 13, 614377
  • Senior-Loken syndrome 8, 616307
  • ?Cranioectodermal dysplasia 4, 614378
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
  • Cranioectodermal dysplasia
  • Jeune syndrome
  • Nephronophthisis
  • Senior-Loken syndrome
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly
Green Green List (high evidence)
WDR34
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Orphanet
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
  • Jeune syndrome
  • Short-rib thoracic dysplasia 11 with or without polydactyly
Green Green List (high evidence)
WDR35
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Cranioectodermal dysplasia 2, 613610
  • Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
  • Cranioectodermal dysplasia
  • Short-rib thoracic dysplasia 7 with or without polydactyly
Green Green List (high evidence)
ZSWIM6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acromelic frontonasal dysostosis 603671
Tags
  • watchlist
  • curated-variant-list
Amber Amber List (moderate evidence)
CEP120
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Orphanet
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly, 616300
  • Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
  • Jeune syndrome
  • Short-rib thoracic dysplasia 13 with or without polydactyly
Amber Amber List (moderate evidence)
DCDC2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Orphanet
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis 19, 616217
  • Neonatal sclerosing cholangitis
Amber Amber List (moderate evidence)
GLIS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Nephronophthisis 7, 611498
  • Nephronophthisis
Amber Amber List (moderate evidence)
IFT43
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cranioectodermal dysplasia 3, 614099
Amber Amber List (moderate evidence)
NEK8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • ?Nephronophthisis 9, 613824
  • ?Renal-hepatic-pancreatic dysplasia 2, 615415
  • Nephronophthisis
  • Renal-hepatic-pancreatic dysplasia
Amber Amber List (moderate evidence)
ZNF423
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Other
  • Orphanet
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 19, 614844
  • Nephronophthisis 14, 614844
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 19
  • Nephronophthisis 14
Red Red List (low evidence)
ACVR2B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • ciliopathies
Red Red List (low evidence)
ADGRV1
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
AIPL1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
ARMC4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 23, 615451
Red Red List (low evidence)
ARMC9
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Joubert syndrome
Red Red List (low evidence)
ATXN10
2 reviews
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Spinocerebellar ataxia 10, 603516
  • Ciliopathies
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
B9D1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • ?Meckel syndrome 9, 614209
  • ciliopathies
  • Meckel syndrome
  • Joubert syndrome 27
Tags
  • polygenic
Red Red List (low evidence)
BBIP1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Red
Phenotypes
  • ?Bardet-Biedl syndrome 18, 615995
Red Red List (low evidence)
C21orf59
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 26, 615500
Tags
  • new-gene-name
Red Red List (low evidence)
C2orf71
2 reviews
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
  • new-gene-name
Red Red List (low evidence)
C8orf37
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Bardet-Biedl syndrome 21, 617406
Red Red List (low evidence)
CCDC103
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679
Red Red List (low evidence)
CCDC114
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 20, 615067
Red Red List (low evidence)
CCDC151
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 30, 616037
Red Red List (low evidence)
CCDC28B
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
  • ciliopathies
Red Red List (low evidence)
CCDC39
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 14, 613807
  • ciliopathies
Red Red List (low evidence)
CCDC40
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 14, 613807
  • ciliopathies
Red Red List (low evidence)
CCDC65
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 27, 615504
Red Red List (low evidence)
CCNO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 29, 615872
Red Red List (low evidence)
CDH23
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
CFAP44
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Spermatogenic failure 20 617593
Red Red List (low evidence)
CFAP53
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
CFC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
CFTR
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
CLRN1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
CRB1
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
CRELD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • ciliopathies
Red Red List (low evidence)
CRX
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
DDX59
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Orofaciodigital syndrome V, 174300
Red Red List (low evidence)
DNAAF1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 13, 613193
  • ciliopathies
Red Red List (low evidence)
DNAAF2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 10, 612518
  • ciliopathies
Red Red List (low evidence)
DNAAF3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 2, 606763
  • ciliopathies
Red Red List (low evidence)
DNAAF4
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 25, 615482 {Dyslexia, susceptibility to, 1}, 127700
Red Red List (low evidence)
DNAAF5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Red Red List (low evidence)
DNAH11
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884
  • ciliopathies
Red Red List (low evidence)
DNAH5
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
  • ciliopathies
Red Red List (low evidence)
DNAI1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
Red Red List (low evidence)
DNAI2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444
Red Red List (low evidence)
DNAJB13
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
DNAL1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 16, 614017
Red Red List (low evidence)
DNHD1
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
DRC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 21, 615294
Red Red List (low evidence)
EXOC8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
Red Red List (low evidence)
FOXH1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
GAS8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 33, 616726
Red Red List (low evidence)
GDF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Expert list
Red Red List (low evidence)
GUCY2D
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
HYDIN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
IFT27
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • ?Bardet-Biedl syndrome 19, 615996
Red Red List (low evidence)
IFT52
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Short-rib thoracic dysplasia 16 with or without polydactyly, 617102
Red Red List (low evidence)
IFT74
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Bardet-Biedl syndrome 20, 617119
Red Red List (low evidence)
IFT81
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
IMPDH1
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
KCNJ13
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
KIAA0556
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Joubert syndrome 26
Red Red List (low evidence)
KIAA0753
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Orofaciodigital syndrome XV 617127
Red Red List (low evidence)
KIF14
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • intrauterine growth restriction (IUGR)
  • microcephaly
  • renal cystic dysplasia/agenesis
  • complex brain malformation
  • genitourinary malformation
  • ?Meckel syndrome 12, 616258
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
  • ?Meckel syndrome 12
Red Red List (low evidence)
LBR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • UKGTN
Phenotypes
  • Skeletal Ciliopathies
Red Red List (low evidence)
LCA5
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Leber congenital amaurosis 5, 604537
  • Ciliopathies
Red Red List (low evidence)
LEFTY2
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
LRAT
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
LRRC6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 19, 614935
Red Red List (low evidence)
LZTFL1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Red
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 17, 615994
Red Red List (low evidence)
MCIDAS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Red Red List (low evidence)
MUC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
  • Expert list
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Red Red List (low evidence)
MYO7A
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
NKX2-5
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
NME8
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 6, 610852
Red Red List (low evidence)
NODAL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Expert list
Red Red List (low evidence)
OCRL
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dent disease 2, 300555
  • Lowe syndrome, 309000
Red Red List (low evidence)
PCDH15
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
PDE6D
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • ?Joubert syndrome 22, 615665
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
  • ?Joubert syndrome 22
Red Red List (low evidence)
PIBF1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Research
  • Literature
  • Expert Review
  • Expert Review Red
Phenotypes
  • Joubert syndrome
  • vermis hypoplasia
  • thick superior cerebellar peduncles
  • superior cerebellar dysplasia
  • ataxia
  • developmental delay
Red Red List (low evidence)
POC1A
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
Red Red List (low evidence)
POC1B
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Expert list
Phenotypes
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Red Red List (low evidence)
PRKCSH
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Red Red List (low evidence)
RD3
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
RDH12
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
RPE65
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
RPGR
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Expert list
Red Red List (low evidence)
RPGRIP1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Orphanet
Phenotypes
  • Ciliopathies
  • Meckel syndrome
Red Red List (low evidence)
RSPH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 24, 615481
Red Red List (low evidence)
RSPH4A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 11, 612649
Red Red List (low evidence)
RSPH9
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 12, 612650
Red Red List (low evidence)
SCLT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36)
Red Red List (low evidence)
SCNN1A
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
SCNN1B
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
SCNN1G
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
SEC63
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
  • Expert list
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Red Red List (low evidence)
SPAG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 28, 615505
Red Red List (low evidence)
SPATA7
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leber congenital amaurosis 3, 604232
  • Retinitis pigmentosa, juvenile, autosomal recessive, 604232
  • Ciliopathies
Red Red List (low evidence)
TAPT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Red Red List (low evidence)
TBC1D32
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)
Red Red List (low evidence)
TOPORS
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
TRIM32
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Red
  • UKGTN
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2H, 254110
  • ?Bardet-Biedl syndrome 11, 615988
Red Red List (low evidence)
TSC1
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
TSC2
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
TTBK2
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia 11, 604432
Red Red List (low evidence)
TULP1
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leber congenital amaurosis 15, 613843
  • Retinitis pigmentosa 14, 600132
  • Ciliopathies
Red Red List (low evidence)
UMOD
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Red Red List (low evidence)
USH1C
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
USH1G
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
USH2A
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
VHL
1 review
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Erythrocytosis, familial, 2, 263400
  • Hemangioblastoma, cerebellar, somatic
  • Pheochromocytoma, 171300
  • Renal cell carcinoma, somatic, 144700
  • von Hippel-Lindau syndrome, 193300
  • Ciliopathies
Red Red List (low evidence)
WDR60
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
  • Orphanet
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
  • Jeune syndrome
  • Short-rib thoracic dysplasia 8 with or without polydactyly
Red Red List (low evidence)
WDR63
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • occipital encephalocele and inconsistent brain lobulation
  • ciliopathy-like disorder
Tags
  • deletions
Red Red List (low evidence)
WHRN
2 reviews
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
XPNPEP3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis-like nephropathy 1, 613159
  • Ciliopathies
  • Nephronophthisis
Red Red List (low evidence)
ZIC3
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Expert list
Red Red List (low evidence)
ZMYND10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 22, 615444
No list No list
ATD
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Short-rib thoracic dysplasia 1 with or without polydactyly
Tags
  • locus-type-phenotype-only

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

Major version comments

Downloads

Download lists

Download Version