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

15 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: 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

  • 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

202 Entities

198 reviewed, 85 green

List Entity Reviews Mode of inheritance Details
202 Entitiess
Green Green List (high evidence)
2q13 recurrent region (includes NPHP1) Loss
ISCA-37405-Loss
Region
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities
  • 266900
  • 609583
Tags
Green Green List (high evidence)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • RCAD syndrome
  • utero-vaginal atresia
  • Schizophrenia
  • 614527
  • delayed development, intellectual disability
  • Renal cysts and diabetes syndrome
  • Autism Spectrum Disorder
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • Chromosome 17q12 deletion syndrome
  • global developmental delay
Tags
Green Green List (high evidence)
AHI1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Joubert syndrome-3.
  • Joubert syndrome 3
Tags
Green Green List (high evidence)
ALMS1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • UKGTN
Phenotypes
  • Alstrom syndrome
  • Bardet-Biedl Syndrome
  • 203800
  • Alstrom Syndrome
Tags
Green Green List (high evidence)
ANKS6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
  • Nephronophthisis 16, 615382
  • Nephronophthisis
Tags
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
Tags
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
Tags
Green Green List (high evidence)
B9D2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel syndrome 10, 614175
  • ciliopathies
  • Meckel syndrome
  • Joubert syndrome
Tags
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
Tags
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
Tags
Green Green List (high evidence)
BBS12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet‐Biedl syndrome 12
Tags
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
Tags
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
Tags
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
Tags
Green Green List (high evidence)
BBS9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet‐Biedl syndrome 9
Tags
Green Green List (high evidence)
C21orf2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (JATD)
  • Retinal dystrophy with macular staphyloma, 617547
  • Spondylometaphyseal dysplasia, axial, 602271
  • Jeune Syndrome
Tags
  • new-gene-name
Green Green List (high evidence)
C2CD3
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Orofaciodigital syndrome XIV, 615948
  • short-rib polydactyly syndromes (SRPS
  • MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
  • MIM208500)
  • Orofaciodigital syndromes (OFDS, MIM 311200)
Tags
Green Green List (high evidence)
C5orf42
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
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
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
Phenotypes
  • Joubert syndrome 9
  • Meckel syndrome 6
  • COACH syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
Tags
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
Tags
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
Tags
Green Green List (high evidence)
CEP120
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
CEP164
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 15, 614845
  • ciliopathies
  • Senior-Loken syndrome
  • Nephronophthisis 15
Tags
Green Green List (high evidence)
CEP290
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
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
Tags
Green Green List (high evidence)
CEP41
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 15
Tags
Green Green List (high evidence)
CEP83
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 18 615862
Tags
Green Green List (high evidence)
CFAP43
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 19 617592
Tags
Green Green List (high evidence)
CRB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Tags
Green Green List (high evidence)
CSPP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
Phenotypes
  • Joubert syndrome
  • Meckel-Gruber syndrome
  • Joubert syndrome 21
  • Meckel syndrome
Tags
Green Green List (high evidence)
DDX59
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
Green Green List (high evidence)
DHCR7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Tags
Green Green List (high evidence)
DNAH1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 18 617576
Tags
Green Green List (high evidence)
DYNC2H1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Tags
Green Green List (high evidence)
HNF1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Tags
Green Green List (high evidence)
HYLS1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hydrolethalus syndrome, 236680
  • Joubert syndrome
Tags
Green Green List (high evidence)
ICK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Endocrine-cerebroosteodysplasia, 612651
  • ECO
  • short-rib thoracic dysplasia with polydactyly (SRTD)
Tags
Green Green List (high evidence)
IFT122
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cranioectodermal dysplasia 1, 218330
  • Cranioectodermal dysplasia
Tags
Green Green List (high evidence)
IFT140
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
IFT172
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
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 Review Green
  • Expert list
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly, 611263
  • Jeune syndrome
  • Short-rib thoracic dysplasia 2 with or without polydactyly
Tags
Green Green List (high evidence)
INPP5E
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 1
Tags
Green Green List (high evidence)
INVS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 2, infantile, 602088
  • Nephronophthisis
  • Senior-Loken syndrome
Tags
Green Green List (high evidence)
IQCB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Senior-Loken syndrome 5, 609254
  • Senior-Loken syndrome
Tags
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
Tags
Green Green List (high evidence)
KIF7
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 12 200990
  • Acrocallosal syndrome 200990
Tags
Green Green List (high evidence)
MAPKBP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephronophthisis 20 617271
Tags
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
Tags
Green Green List (high evidence)
MKS1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
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
Tags
Green Green List (high evidence)
NEK1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
  • Short-rib thoracic dysplasia 6 with or without polydactyly
Tags
Green Green List (high evidence)
NEK8
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Nephronophthisis 9, 613824
  • ?Renal-hepatic-pancreatic dysplasia 2, 615415
  • Nephronophthisis
  • Renal-hepatic-pancreatic dysplasia
Tags
Green Green List (high evidence)
NPHP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis
  • Joubert syndrome 4
  • 609583 Nephronophthisis 1, juvenile
  • 256100 Senior-Loken syndrome-1, 266900
  • Senior-Loken syndrome
Tags
Green Green List (high evidence)
NPHP3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel syndrome 7, 267010
  • Nephronophthisis 3, 604387
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Nephronophthisis
  • Renal-hepatic-pancreatic dysplasia
  • Senior-Loken syndrome
Tags
Green Green List (high evidence)
NPHP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 4, 606966
  • Senior-Loken syndrome 4, 606996
  • Nephronophthisis
  • Senior-Loken syndrome
Tags
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
Tags
Green Green List (high evidence)
PKD1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease, adult type I, 173900
Tags
Green Green List (high evidence)
PKD2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease 2, 613095
Tags
Green Green List (high evidence)
PKHD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney and hepatic disease, 263200
Tags
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
Tags
Green Green List (high evidence)
RPGRIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
Phenotypes
  • Joubert syndrome
  • Meckel-Gruber syndrome
  • Joubert syndrome 7
  • Meckel syndrome 5
  • Meckel syndrome
Tags
Green Green List (high evidence)
SBDS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Skeletal Ciliopathies
Tags
Green Green List (high evidence)
SDCCAG8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Orphanet
Phenotypes
  • SENIOR-LOKEN SYNDROME
  • Bardet-Biedl Syndrome
  • 613615
  • Senior-Loken syndrome
Tags
Green Green List (high evidence)
TCTEX1D2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
  • Jeune asphyxiating thoracic dystrophy
  • JATD
Tags
Green Green List (high evidence)
TCTN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome
Tags
Green Green List (high evidence)
TCTN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
Phenotypes
  • Joubert syndrome, Meckel-Gruber syndrome
  • Meckel syndrome
  • Joubert syndrome 24
Tags
Green Green List (high evidence)
TCTN3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Orofaciodigital syndrome IV
  • Joubert syndrome
  • Meckel-Gruber
  • Mohr-Majewski syndrome
  • Joubert syndrome 18
Tags
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
Tags
Green Green List (high evidence)
TMEM138
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
Phenotypes
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 16
Tags
Green Green List (high evidence)
TMEM216
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
Phenotypes
  • Joubert syndrome: Meckel-Gruber syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
  • Joubert syndrome 2
Tags
Green Green List (high evidence)
TMEM231
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 20, 614970
  • Meckel syndrome 11, 615397
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
  • Joubert syndrome 20
Tags
Green Green List (high evidence)
TMEM237
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
Phenotypes
  • Joubert syndrome
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 14
Tags
Green Green List (high evidence)
TMEM67
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
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
Tags
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
Tags
Green Green List (high evidence)
TTC21B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
  • UKGTN
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
Tags
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
Tags
Green Green List (high evidence)
TXNDC15
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Meckel-Gruber syndrome
  • MGS
Tags
Green Green List (high evidence)
VPS13B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cohen syndrome, 216550
  • COHEN SYNDROME
Tags
Green Green List (high evidence)
WDPCP
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 15, 615992
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
  • Meckel syndrome
Tags
Green Green List (high evidence)
WDR19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • 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
Tags
Green Green List (high evidence)
WDR34
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
  • Jeune syndrome
  • Short-rib thoracic dysplasia 11 with or without polydactyly
Tags
Green Green List (high evidence)
WDR35
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
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
  • curated-variant-list
  • watchlist
Amber Amber List (moderate evidence)
DCDC2
5 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Orphanet
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis 19, 616217
  • Neonatal sclerosing cholangitis
Tags
Amber Amber List (moderate evidence)
GLIS2
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 7, 611498
  • Nephronophthisis
Tags
Amber Amber List (moderate evidence)
IFT27
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 19, 615996
Tags
Amber Amber List (moderate evidence)
IFT43
3 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cranioectodermal dysplasia 3, 614099
Tags
Amber Amber List (moderate evidence)
SUFU
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Joubert syndrome 32, 617757
Tags
  • watchlist
Amber Amber List (moderate evidence)
ZNF423
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 19, 614844
  • Nephronophthisis 14, 614844
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 19
  • Nephronophthisis 14
Tags
Red Red List (low evidence)
ACVR2B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
ADGRV1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
AIPL1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
ARMC4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 23, 615451
Tags
Red Red List (low evidence)
ARMC9
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Joubert syndrome
Tags
Red Red List (low evidence)
ATXN10
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
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
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • 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
  • polygenic
Red Red List (low evidence)
BBIP1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 18, 615995
Tags
Red Red List (low evidence)
C21orf59
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 26, 615500
Tags
  • new-gene-name
Red Red List (low evidence)
C2orf71
2 reviews
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
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
Tags
Red Red List (low evidence)
CCDC103
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679
Tags
Red Red List (low evidence)
CCDC114
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 20, 615067
Tags
Red Red List (low evidence)
CCDC151
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 30, 616037
Tags
Red Red List (low evidence)
CCDC28B
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
  • ciliopathies
Tags
Red Red List (low evidence)
CCDC39
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 14, 613807
  • ciliopathies
Tags
Red Red List (low evidence)
CCDC40
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 14, 613807
  • ciliopathies
Tags
Red Red List (low evidence)
CCDC65
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 27, 615504
Tags
Red Red List (low evidence)
CCNO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 29, 615872
Tags
Red Red List (low evidence)
CDH23
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
CFAP44
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Spermatogenic failure 20 617593
Tags
Red Red List (low evidence)
CFAP53
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
CFC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
CFTR
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
CLRN1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
CRB1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
CRELD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
CRX
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
DNAAF1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 13, 613193
  • ciliopathies
Tags
Red Red List (low evidence)
DNAAF2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 10, 612518
  • ciliopathies
Tags
Red Red List (low evidence)
DNAAF3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 2, 606763
  • ciliopathies
Tags
Red Red List (low evidence)
DNAAF4
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 25, 615482 {Dyslexia, susceptibility to, 1}, 127700
Tags
Red Red List (low evidence)
DNAAF5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
DNAH11
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884
  • ciliopathies
Tags
Red Red List (low evidence)
DNAH5
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
  • ciliopathies
Tags
Red Red List (low evidence)
DNAI1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
Tags
Red Red List (low evidence)
DNAI2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444
Tags
Red Red List (low evidence)
DNAJB13
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
DNAL1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 16, 614017
Tags
Red Red List (low evidence)
DNHD1
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
DRC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 21, 615294
Tags
Red Red List (low evidence)
EXOC3L2
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • anhydramnios
  • echogenic kidneys
  • hydrocephalus
  • Dandy-Walker malformation
  • enlarged echogenic kidneys
Tags
  • watchlist
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)
Tags
Red Red List (low evidence)
FOXH1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
GAS8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 33, 616726
Tags
Red Red List (low evidence)
GDF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
GUCY2D
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
HYDIN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
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
Tags
Red Red List (low evidence)
IFT81
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
IMPDH1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
KCNJ13
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
KIAA0556
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Joubert syndrome 26
Tags
Red Red List (low evidence)
KIAA0753
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Orofaciodigital syndrome XV 617127
Tags
Red Red List (low evidence)
KIF14
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
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
Tags
Red Red List (low evidence)
LBR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • UKGTN
Phenotypes
  • Skeletal Ciliopathies
Tags
Red Red List (low evidence)
LCA5
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leber congenital amaurosis 5, 604537
  • Ciliopathies
Tags
Red Red List (low evidence)
LEFTY2
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
LRAT
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
LRRC6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 19, 614935
Tags
Red Red List (low evidence)
LZTFL1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 17, 615994
Tags
Red Red List (low evidence)
MCIDAS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
MUC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Tags
Red Red List (low evidence)
MYO7A
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
NKX2-5
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
NME8
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 6, 610852
Tags
Red Red List (low evidence)
NODAL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
Tags
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
Tags
Red Red List (low evidence)
PCDH15
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
PDE6D
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Joubert syndrome 22, 615665
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
  • ?Joubert syndrome 22
Tags
Red Red List (low evidence)
PIBF1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Literature
  • Research
Phenotypes
  • Joubert syndrome
  • vermis hypoplasia
  • thick superior cerebellar peduncles
  • superior cerebellar dysplasia
  • ataxia
  • developmental delay
Tags
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
Tags
Red Red List (low evidence)
POC1B
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • UKGTN
Phenotypes
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Tags
Red Red List (low evidence)
PRKCSH
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
RD3
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
RDH12
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
RPE65
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
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
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
RPGRIP1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Orphanet
Phenotypes
  • Ciliopathies
  • Meckel syndrome
Tags
Red Red List (low evidence)
RSPH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 24, 615481
Tags
Red Red List (low evidence)
RSPH4A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 11, 612649
Tags
Red Red List (low evidence)
RSPH9
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 12, 612650
Tags
Red Red List (low evidence)
SCLT1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36)
Tags
Red Red List (low evidence)
SCNN1A
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
SCNN1B
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
SCNN1G
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
SEC63
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Tags
Red Red List (low evidence)
SPAG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 28, 615505
Tags
Red Red List (low evidence)
SPATA7
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leber congenital amaurosis 3, 604232
  • Retinitis pigmentosa, juvenile, autosomal recessive, 604232
  • Ciliopathies
Tags
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
Tags
Red Red List (low evidence)
TBC1D32
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)
Tags
Red Red List (low evidence)
TOPORS
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
TRIM32
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2H, 254110
  • ?Bardet-Biedl syndrome 11, 615988
Tags
Red Red List (low evidence)
TSC1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
TSC2
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
TTBK2
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia 11, 604432
Tags
Red Red List (low evidence)
TULP1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leber congenital amaurosis 15, 613843
  • Retinitis pigmentosa 14, 600132
  • Ciliopathies
Tags
Red Red List (low evidence)
UMOD
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Tags
Red Red List (low evidence)
USH1C
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
USH1G
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
USH2A
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
VHL
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • 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
Tags
Red Red List (low evidence)
WDR60
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Orphanet
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
  • Jeune syndrome
  • Short-rib thoracic dysplasia 8 with or without polydactyly
Tags
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
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Ciliopathies
Tags
Red Red List (low evidence)
XPNPEP3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis-like nephropathy 1, 613159
  • Ciliopathies
  • Nephronophthisis
Tags
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
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
ZMYND10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 22, 615444
Tags
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

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