1. Panels
  2. Rare multisystem ciliopathy Super panel
The latest signed off version for the GMS is v21.1. The current version, shown here, may differ from the signed-off version.

Rare multisystem ciliopathy Super panel (Version 21.36)

Level 2: Multispecialty

This panel contains these 4 panels:
Neurological ciliopathies v6.13
Skeletal ciliopathies v6.5
Ophthalmological ciliopathies v5.11
Renal ciliopathies v4.7
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Latest signed off version: v21.1 (30 Apr 2025)
Previously signed off versions: v17.4, v16.4, v15.2, v12.2, v8.2, v4.21
Description
This panel is a super panel composed of the constituent panel(s) as defined in the link(s) above. Changes made to the constituent panel(s) will automatically be updated in the super panel and the version will be updated.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This is comprised of:
- Neurological ciliopathies, version 6.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/724/?version=6.0)
- Renal ciliopathies, version 4.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/725/?version=4.0)
- Skeletal ciliopathies, version 6.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/726/?version=6.0)
- Ophthalmological ciliopathies, version 5.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/722/?version=5.0)

The constituent panels will continue to be curated based on external reviews and Genomics England curation. New changes to constituent panels will be reflected in an increase to the minor version of the panel and details of these can be viewed on each constituent panel 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

One or more of the constituent panels of this super panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

334 Entities

332 reviewed, 232 green

List Entity Reviews Mode of inheritance Details
334 Entitiess
Green List (high evidence)
AHI1
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 3
  • Joubert syndrome
  • Joubert syndrome-3.
Tags
Green List (high evidence)
AHI1
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 3
  • Joubert syndrome
  • Joubert syndrome-3.
Tags
Green List (high evidence)
AHI1
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 3
  • Joubert syndrome
  • Joubert syndrome-3.
Tags
Green List (high evidence)
ALMS1
Ophthalmological ciliopathies v5.11
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Eligibility statement prior genetic testing
  • UKGTN
  • Expert list
Phenotypes
  • Alstrom Syndrome
  • Bardet-Biedl Syndrome
  • 203800
  • Alstrom syndrome
Tags
Green List (high evidence)
ALMS1
Renal ciliopathies v4.7
6 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Eligibility statement prior genetic testing
  • UKGTN
  • Expert list
Phenotypes
  • Bardet-Biedl Syndrome
  • Alstrom syndrome, OMIM:203800
Tags
Green List (high evidence)
ANKS6
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
  • Nephronophthisis 16, OMIM:615382
Tags
Green List (high evidence)
ARL13B
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 8
Tags
Green List (high evidence)
ARL13B
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 8
Tags
Green List (high evidence)
ARL13B
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 8
Tags
Green List (high evidence)
ARL3
Ophthalmological ciliopathies v5.11
3 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 35, OMIM:61816
  • cone-rod dystrophy, MONDO:0015993
  • Retinitis pigmentosa 83, OMIM:618173
Tags
Green List (high evidence)
ARL6
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • {Bardet Biedl syndrome 1, modifier of}
  • Bardet-Biedl Syndrome
  • 268000
  • Bardet Biedl syndrome 3
Tags
Green List (high evidence)
ARL6
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • {Bardet Biedl syndrome 1, modifier of}
  • Bardet-Biedl Syndrome
  • 268000
  • Bardet Biedl syndrome 3
Tags
Green List (high evidence)
ARMC9
Neurological ciliopathies v6.13
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Joubert syndrome 30, 617622
Tags
Green List (high evidence)
ARMC9
Ophthalmological ciliopathies v5.11
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • Joubert syndrome 30, 617622
Tags
Green List (high evidence)
B9D2
Renal ciliopathies v4.7
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
Tags
Green List (high evidence)
B9D2
Ophthalmological ciliopathies v5.11
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
Tags
Green List (high evidence)
B9D2
Neurological ciliopathies v6.13
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
Tags
Green List (high evidence)
BBS1
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 13
  • 268000
  • Bardet Biedl syndrome 1
  • Bardet Biedl syndrome 11
Tags
Green List (high evidence)
BBS1
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
Tags
Green List (high evidence)
BBS10
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 10
Tags
Green List (high evidence)
BBS10
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 10
Tags
Green List (high evidence)
BBS12
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 12
Tags
Green List (high evidence)
BBS12
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 12
Tags
Green List (high evidence)
BBS2
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 2
Tags
Green List (high evidence)
BBS2
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 2
Tags
Green List (high evidence)
BBS4
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 4
Tags
Green List (high evidence)
BBS4
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 4
Tags
Green List (high evidence)
BBS5
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 5
Tags
Green List (high evidence)
BBS5
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 5
Tags
Green List (high evidence)
BBS7
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 7
Tags
Green List (high evidence)
BBS7
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 7
Tags
Green List (high evidence)
BBS9
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 9
Tags
Green List (high evidence)
BBS9
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 9
Tags
Green List (high evidence)
C21orf2
Ophthalmological ciliopathies v5.11
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (JATD)
  • Jeune Syndrome
  • Spondylometaphyseal dysplasia, axial, 602271
  • Retinal dystrophy with macular staphyloma, 617547
Tags
  • new-gene-name
Green List (high evidence)
C21orf2
Skeletal ciliopathies v6.5
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (JATD)
  • Jeune Syndrome
  • Spondylometaphyseal dysplasia, axial, 602271
  • Retinal dystrophy with macular staphyloma, 617547
Tags
  • new-gene-name
Green List (high evidence)
C2CD3
Neurological ciliopathies v6.13
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • short-rib polydactyly syndromes (SRPS
  • MIM208500)
  • MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
  • ?Orofaciodigital syndrome XIV, 615948
  • Orofaciodigital syndromes (OFDS, MIM 311200)
Tags
Green List (high evidence)
C2CD3
Skeletal ciliopathies v6.5
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • short-rib polydactyly syndromes (SRPS
  • MIM208500)
  • MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
  • ?Orofaciodigital syndrome XIV, 615948
  • Orofaciodigital syndromes (OFDS, MIM 311200)
Tags
Green List (high evidence)
C5orf42
Renal ciliopathies v4.7
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 List (high evidence)
C5orf42
Ophthalmological ciliopathies v5.11
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 List (high evidence)
C5orf42
Neurological ciliopathies v6.13
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Oral-facial-digital syndrome type VI
  • Joubert syndrome 17
Tags
  • new-gene-name
Green List (high evidence)
C8orf37
Ophthalmological ciliopathies v5.11
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308
  • Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786
  • Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200
Tags
  • new-gene-name
Green List (high evidence)
CBY1
Neurological ciliopathies v6.13
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • intellectual disability
  • cerebellar ataxia
  • molar tooth sign
  • polydactyly
  • Joubert syndrome
Tags
  • gene-checked
Green List (high evidence)
CC2D2A
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 9
  • COACH syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome 6
  • Meckel syndrome
Tags
Green List (high evidence)
CC2D2A
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 9
  • COACH syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome 6
  • Meckel syndrome
Tags
Green List (high evidence)
CC2D2A
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 9
  • COACH syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome 6
  • Meckel syndrome
Tags
Green List (high evidence)
CENPF
Neurological ciliopathies v6.13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Stromme syndrome, OMIM:243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green List (high evidence)
CENPF
Renal ciliopathies v4.7
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stromme syndrome, OMIM:243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green List (high evidence)
CENPF
Ophthalmological ciliopathies v5.11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stromme syndrome, OMIM:243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green List (high evidence)
CEP104
Ophthalmological ciliopathies v5.11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
Tags
Green List (high evidence)
CEP104
Neurological ciliopathies v6.13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
Tags
Green List (high evidence)
CEP104
Renal ciliopathies v4.7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
Tags
Green List (high evidence)
CEP120
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly
  • Jeune syndrome
  • Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
  • Short-rib thoracic dysplasia 13 with or without polydactyly, 616300
Tags
Green List (high evidence)
CEP164
Ophthalmological ciliopathies v5.11
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
  • Nephronophthisis 15
  • Senior-Loken syndrome
  • Nephronophthisis 15, 614845
Tags
Green List (high evidence)
CEP164
Renal ciliopathies v4.7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
  • Nephronophthisis 15
  • Senior-Loken syndrome
  • Nephronophthisis 15, 614845
Tags
Green List (high evidence)
CEP290
Ophthalmological ciliopathies v5.11
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • 610189
  • Meckel syndrome 4
  • Senior-Loken syndrome
  • 611755
  • Joubert syndrome 5
  • Joubert syndrome with oculorenal defect
  • 610188
  • Senior-Loken syndrome 6
  • 611134
  • Meckel syndrome
Tags
Green List (high evidence)
CEP290
Renal ciliopathies v4.7
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • 610189
  • Meckel syndrome 4
  • Senior-Loken syndrome
  • 611755
  • Joubert syndrome 5
  • Joubert syndrome with oculorenal defect
  • 610188
  • Senior-Loken syndrome 6
  • 611134
  • Meckel syndrome
Tags
Green List (high evidence)
CEP290
Neurological ciliopathies v6.13
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 610189
  • Meckel syndrome 4
  • Senior-Loken syndrome
  • 611755
  • Joubert syndrome 5
  • Joubert syndrome with oculorenal defect
  • 610188
  • Senior-Loken syndrome 6
  • 611134
  • Meckel syndrome
Tags
Green List (high evidence)
CEP41
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 15
Tags
Green List (high evidence)
CEP41
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 15
Tags
Green List (high evidence)
CEP41
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 15
Tags
Green List (high evidence)
CEP83
Renal ciliopathies v4.7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 18 615862
Tags
Green List (high evidence)
CRB2
Neurological ciliopathies v6.13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Tags
Green List (high evidence)
CRB2
Renal ciliopathies v4.7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Tags
Green List (high evidence)
CSPP1
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Meckel syndrome
  • Joubert syndrome 21
  • Meckel-Gruber syndrome
Tags
Green List (high evidence)
CSPP1
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Meckel syndrome
  • Joubert syndrome 21
  • Meckel-Gruber syndrome
Tags
Green List (high evidence)
CSPP1
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Meckel syndrome
  • Joubert syndrome 21
  • Meckel-Gruber syndrome
Tags
Green List (high evidence)
CSPP1
Skeletal ciliopathies v6.5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 21, OMIM:615636
  • Joubert syndrome with Jeune asphyxiating thoracic dystrophy, MONDO:0018342
Tags
Green List (high evidence)
DDX59
Renal ciliopathies v4.7
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
Green List (high evidence)
DDX59
Neurological ciliopathies v6.13
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
Green List (high evidence)
DDX59
Ophthalmological ciliopathies v5.11
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
Green List (high evidence)
DHCR7
Neurological ciliopathies v6.13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Tags
Green List (high evidence)
DHCR7
Skeletal ciliopathies v6.5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Tags
Green List (high evidence)
DHCR7
Renal ciliopathies v4.7
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Smith-Lemli-Opitz syndrome, OMIM:270400
Tags
Green List (high evidence)
DLG5
Renal ciliopathies v4.7
6 reviews
4 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Yuksel-Vogel-Bauser syndrome, OMIM:620703
Tags
  • Q2_25_ MOI
  • Q2_25_ NHS_review
Green List (high evidence)
DYNC2H1
Skeletal ciliopathies v6.5
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Tags
Green List (high evidence)
DYNC2H1
Renal ciliopathies v4.7
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Tags
Green List (high evidence)
DYNC2LI1
Skeletal ciliopathies v6.5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Short-rib throacic dysplasia 15 with polydactyly, 617088
Tags
Green List (high evidence)
EVC
Skeletal ciliopathies v6.5
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Ellis-van Creveld syndrome, OMIM:225500
Tags
Green List (high evidence)
EVC
Neurological ciliopathies v6.13
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ellis-van Creveld syndrome, OMIM:225500
Tags
Green List (high evidence)
EVC2
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Ellis-van Creveld syndrome, OMIM:225500
  • Weyers acrofacial dysostosis, OMIM:193530
Tags
  • Q3_25_MOI
Green List (high evidence)
EVC2
Neurological ciliopathies v6.13
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ellis-van Creveld syndrome, OMIM:225500
  • Weyers acrofacial dysostosis, OMIM:193530
Tags
  • Q3_25_MOI
Green List (high evidence)
EXOC3L2
Neurological ciliopathies v6.13
5 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Brain malformation renal syndrome, OMIM:620943
Tags
Green List (high evidence)
FAM149B1
Ophthalmological ciliopathies v5.11
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 36, OMIM:618763
Tags
  • gene-checked
Green List (high evidence)
FAM149B1
Neurological ciliopathies v6.13
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 36, OMIM:618763
Tags
  • gene-checked
Green List (high evidence)
FAM149B1
Skeletal ciliopathies v6.5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Joubert syndrome 36, OMIM:618763
Tags
  • gene-checked
Green List (high evidence)
GLI3
Neurological ciliopathies v6.13
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Greig cephalopolysyndactyly syndrome, OMIM:175700
  • Pallister-Hall syndrome, OMIM:146510
Tags
Green List (high evidence)
GLI3
Ophthalmological ciliopathies v5.11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Greig cephalopolysyndactyly syndrome, OMIM:175700
  • Pallister-Hall syndrome, OMIM:146510
Tags
Green List (high evidence)
GLI3
Skeletal ciliopathies v6.5
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Greig cephalopolysyndactyly syndrome, OMIM:175700
  • Pallister-Hall syndrome, OMIM:146510
Tags
Green List (high evidence)
GLIS2
Renal ciliopathies v4.7
5 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis 7, OMIM:611498
Tags
Green List (high evidence)
HNF1B
Renal ciliopathies v4.7
3 reviews
1 red 		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 List (high evidence)
HYLS1
Neurological ciliopathies v6.13
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Hydrolethalus syndrome, 236680
Tags
Green List (high evidence)
HYLS1
Ophthalmological ciliopathies v5.11
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Joubert syndrome
  • Hydrolethalus syndrome, 236680
Tags
Green List (high evidence)
HYLS1
Renal ciliopathies v4.7
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Joubert syndrome
  • Hydrolethalus syndrome, 236680
Tags
Green List (high evidence)
ICK
Skeletal ciliopathies v6.5
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • new-gene-name
Green List (high evidence)
ICK
Neurological ciliopathies v6.13
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • new-gene-name
Green List (high evidence)
ICK
Renal ciliopathies v4.7
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • new-gene-name
  • watchlist
Green List (high evidence)
IFT122
Skeletal ciliopathies v6.5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Cranioectodermal dysplasia
  • Cranioectodermal dysplasia 1, 218330
Tags
Green List (high evidence)
IFT122
Renal ciliopathies v4.7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Cranioectodermal dysplasia
  • Cranioectodermal dysplasia 1, 218330
Tags
Green List (high evidence)
IFT140
Renal ciliopathies v4.7
6 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920
  • short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964
  • cystic kidney disease, MONDO:0002473
  • {Polycystic kidney disease 9, susceptibility to}, OMIM:621164
Tags
Green List (high evidence)
IFT140
Skeletal ciliopathies v6.5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
Phenotypes
  • Saldino-Mainzer syndrome
  • Jeune syndrome
  • Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
  • Mainzer-Saldino Syndrome
  • Short-rib thoracic dysplasia 9 with or without polydactyly
Tags
Green List (high evidence)
IFT172
Skeletal ciliopathies v6.5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
Phenotypes
  • Retinitis pigmentosa 71, 616394
  • Short-rib thoracic dysplasia 10 with or without polydactyly
  • Saldino-Mainzer syndrome
  • Jeune syndrome
  • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
Tags
Green List (high evidence)
IFT172
Ophthalmological ciliopathies v5.11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
Phenotypes
  • Retinitis pigmentosa 71, 616394
  • Short-rib thoracic dysplasia 10 with or without polydactyly
  • Saldino-Mainzer syndrome
  • Jeune syndrome
  • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
Tags
Green List (high evidence)
IFT172
Renal ciliopathies v4.7
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630
Tags
Green List (high evidence)
IFT27
Ophthalmological ciliopathies v5.11
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 19, OMIM:615996
Tags
Green List (high evidence)
IFT27
Renal ciliopathies v4.7
6 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 19, OMIM:615996
Tags
Green List (high evidence)
IFT43
Renal ciliopathies v4.7
4 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Cranioectodermal dysplasia 3, 614099
  • Sensenbrenner syndrome
  • Short-rib thoracic dysplasia 18 with polydactyly, 617866
Tags
Green List (high evidence)
IFT43
Skeletal ciliopathies v6.5
4 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Cranioectodermal dysplasia 3, 614099
  • Sensenbrenner syndrome
  • Short-rib thoracic dysplasia 18 with polydactyly, 617866
Tags
Green List (high evidence)
IFT52
Skeletal ciliopathies v6.5
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
  • Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Tags
Green List (high evidence)
IFT74
Ophthalmological ciliopathies v5.11
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • ?Bardet-Biedl syndrome 20, 617119
Tags
Green List (high evidence)
IFT74
Neurological ciliopathies v6.13
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 40, OMIM:619582
  • Joubert syndrome 40, MONDO:0030462
Tags
Green List (high evidence)
IFT80
Skeletal ciliopathies v6.5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly
  • Jeune syndrome
  • Short-rib thoracic dysplasia 2 with or without polydactyly, 611263
Tags
Green List (high evidence)
IFT81
Skeletal ciliopathies v6.5
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly, 617895
Tags
Green List (high evidence)
INPP5E
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 1
Tags
Green List (high evidence)
INPP5E
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 1
Tags
Green List (high evidence)
INPP5E
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 1
Tags
Green List (high evidence)
INTU
Skeletal ciliopathies v6.5
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925
  • ?Orofaciodigital syndrome XVII, OMIM:617926
Tags
Green List (high evidence)
INVS
Renal ciliopathies v4.7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Senior-Loken syndrome
  • Nephronophthisis 2, infantile, 602088
  • Nephronophthisis
Tags
Green List (high evidence)
IQCB1
Renal ciliopathies v4.7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Senior-Loken syndrome 5, 609254
  • Senior-Loken syndrome
Tags
Green List (high evidence)
IQCB1
Ophthalmological ciliopathies v5.11
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Senior-Loken syndrome 5, 609254
  • Senior-Loken syndrome
Tags
Green List (high evidence)
IQCE
Skeletal ciliopathies v6.5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polydactyly, postaxial, type A7 OMIM:617642
  • polydactyly, postaxial, type a7 MONDO:0060550
Tags
Green List (high evidence)
2q13 recurrent region (includes NPHP1) Loss
ISCA-37405-Loss
Region
Renal ciliopathies v4.7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 609583
  • 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
Tags
Green List (high evidence)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
Renal ciliopathies v4.7
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Schizophrenia
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • delayed development, intellectual disability
  • 614527
  • RCAD syndrome
  • utero-vaginal atresia
  • Chromosome 17q12 deletion syndrome
  • Autism Spectrum Disorder
  • global developmental delay
  • Renal cysts and diabetes syndrome
Tags
Green List (high evidence)
KIAA0586
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 23
  • Joubert syndrome
  • Short-rib thoracic dysplasia 14 with polydactyly
  • Short-rib dysplasia 14 with polydactyly
Tags
Green List (high evidence)
KIAA0586
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 23
  • Joubert syndrome
  • Short-rib thoracic dysplasia 14 with polydactyly
  • Short-rib dysplasia 14 with polydactyly
Tags
Green List (high evidence)
KIAA0586
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 23
  • Joubert syndrome
  • Short-rib thoracic dysplasia 14 with polydactyly
  • Short-rib dysplasia 14 with polydactyly
Tags
Green List (high evidence)
KIAA0586
Skeletal ciliopathies v6.5
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
  • short-rib thoracic dysplasia 14 with polydactyly, MONDO:0014688
Tags
Green List (high evidence)
KIAA0753
Neurological ciliopathies v6.13
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome XV 617127
Tags
Green List (high evidence)
KIAA0753
Skeletal ciliopathies v6.5
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • ?Orofaciodigital syndrome XV 617127
  • Joubert syndrome
  • Short-rib skeletal dysplasia
Tags
Green List (high evidence)
KIAA0753
Renal ciliopathies v4.7
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • ?Orofaciodigital syndrome XV 617127
  • Joubert syndrome
  • Short-rib skeletal dysplasia
Tags
Green List (high evidence)
KIF7
Renal ciliopathies v4.7
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 12 200990
  • Acrocallosal syndrome 200990
Tags
Green List (high evidence)
KIF7
Ophthalmological ciliopathies v5.11
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 12 200990
  • Acrocallosal syndrome 200990
Tags
Green List (high evidence)
KIF7
Neurological ciliopathies v6.13
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 12 200990
  • Acrocallosal syndrome 200990
Tags
Green List (high evidence)
LAMA1
Ophthalmological ciliopathies v5.11
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Poretti-Boltshauser syndrome OMIM:615960
  • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Tags
Green List (high evidence)
LAMA1
Neurological ciliopathies v6.13
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Poretti-Boltshauser syndrome OMIM:615960
  • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Tags
Green List (high evidence)
LBR
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Skeletal Ciliopathies
  • Greenberg skeletal dysplasia, 215140
Tags
Green List (high evidence)
LZTFL1
Ophthalmological ciliopathies v5.11
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 17, 615994
Tags
Green List (high evidence)
LZTFL1
Renal ciliopathies v4.7
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 17, 615994
Tags
Green List (high evidence)
MAPKBP1
Renal ciliopathies v4.7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephronophthisis 20 617271
Tags
Green List (high evidence)
MKKS
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 6
  • 236700
Tags
Green List (high evidence)
MKKS
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 6
  • 236700
Tags
Green List (high evidence)
MKS1
Ophthalmological ciliopathies v5.11
5 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • occipital encephalocele
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • Joubert syndrome 28
  • 249000
  • polydactyly
  • polycystic kidneys
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • renal fibrosis
Tags
Green List (high evidence)
MKS1
Neurological ciliopathies v6.13
5 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • occipital encephalocele
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • Joubert syndrome 28
  • 249000
  • polydactyly
  • polycystic kidneys
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • renal fibrosis
Tags
Green List (high evidence)
MKS1
Renal ciliopathies v4.7
5 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • occipital encephalocele
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • Joubert syndrome 28
  • 249000
  • polydactyly
  • polycystic kidneys
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • renal fibrosis
Tags
Green List (high evidence)
NEK1
Skeletal ciliopathies v6.5
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly
  • Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
Tags
Green List (high evidence)
NEK8
Renal ciliopathies v4.7
4 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Renal-hepatic-pancreatic dysplasia
  • ?Renal-hepatic-pancreatic dysplasia 2, 615415
  • Nephronophthisis
  • ?Nephronophthisis 9, 613824
Tags
Green List (high evidence)
NPHP1
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 4
  • Senior-Loken syndrome
  • 256100 Senior-Loken syndrome-1, 266900
  • 609583 Nephronophthisis 1, juvenile
  • Nephronophthisis
Tags
Green List (high evidence)
NPHP1
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 4
  • Senior-Loken syndrome
  • 256100 Senior-Loken syndrome-1, 266900
  • 609583 Nephronophthisis 1, juvenile
  • Nephronophthisis
Tags
Green List (high evidence)
NPHP1
Renal ciliopathies v4.7
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 4
  • Senior-Loken syndrome
  • 256100 Senior-Loken syndrome-1, 266900
  • 609583 Nephronophthisis 1, juvenile
  • Nephronophthisis
Tags
Green List (high evidence)
NPHP3
Ophthalmological ciliopathies v5.11
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Renal-hepatic-pancreatic dysplasia
  • Senior-Loken syndrome
  • Nephronophthisis 3, 604387
  • Meckel syndrome 7, 267010
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Nephronophthisis
Tags
Green List (high evidence)
NPHP3
Neurological ciliopathies v6.13
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal-hepatic-pancreatic dysplasia
  • Senior-Loken syndrome
  • Nephronophthisis 3, 604387
  • Meckel syndrome 7, 267010
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Nephronophthisis
Tags
Green List (high evidence)
NPHP3
Renal ciliopathies v4.7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Renal-hepatic-pancreatic dysplasia
  • Senior-Loken syndrome
  • Nephronophthisis 3, 604387
  • Meckel syndrome 7, 267010
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Nephronophthisis
Tags
Green List (high evidence)
NPHP4
Renal ciliopathies v4.7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Senior-Loken syndrome
  • Nephronophthisis
  • Senior-Loken syndrome 4, 606996
  • Nephronophthisis 4, 606966
Tags
Green List (high evidence)
NPHP4
Ophthalmological ciliopathies v5.11
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Senior-Loken syndrome
  • Nephronophthisis
  • Senior-Loken syndrome 4, 606996
  • Nephronophthisis 4, 606966
Tags
Green List (high evidence)
OFD1
Neurological ciliopathies v6.13
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
  • Expert Review Green
Phenotypes
  • Joubert syndrome 10
  • X-linked Joubert syndrome
  • Orofaciodigital syndrome I
Tags
Green List (high evidence)
OFD1
Ophthalmological ciliopathies v5.11
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 list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 10
  • X-linked Joubert syndrome
  • Orofaciodigital syndrome I
Tags
Green List (high evidence)
OFD1
Renal ciliopathies v4.7
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 list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 10
  • X-linked Joubert syndrome
  • Orofaciodigital syndrome I
Tags
Green List (high evidence)
PIBF1
Neurological ciliopathies v6.13
6 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 33, OMIM:617767
  • ataxia
  • vermis hypoplasia
  • developmental delay
  • thick superior cerebellar peduncles
  • superior cerebellar dysplasia
Tags
Green List (high evidence)
PIK3C2A
Skeletal ciliopathies v6.5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculoskeletodental syndrome 618440
Tags
Green List (high evidence)
PKD1
Renal ciliopathies v4.7
3 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease, adult type I, 173900
  • Autosomal recessive polycystic kidney disease (ARPKD)
  • Autosomal dominant polycystic kidney disease (ADPKD)
Tags
Green List (high evidence)
PKD2
Renal ciliopathies v4.7
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Polycystic kidney disease 2, 613095
Tags
Green List (high evidence)
PKHD1
Renal ciliopathies v4.7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Tags
Green List (high evidence)
PMM2
Renal ciliopathies v4.7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green List (high evidence)
PMM2
Ophthalmological ciliopathies v5.11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green List (high evidence)
PMM2
Neurological ciliopathies v6.13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green List (high evidence)
PRKACA
Skeletal ciliopathies v6.5
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Cardioacrofacial dysplasia 1, OMIM:619142
Tags
Green List (high evidence)
PRKACB
Skeletal ciliopathies v6.5
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Cardioacrofacial dysplasia 2, OMIM:619143
Tags
Green List (high evidence)
PSKH1
Renal ciliopathies v4.7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 13, OMIM:620962
Tags
Green List (high evidence)
RPGRIP1L
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 7
  • Meckel syndrome 5
  • Joubert syndrome
  • Meckel syndrome
  • Meckel-Gruber syndrome
Tags
Green List (high evidence)
RPGRIP1L
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 7
  • Meckel syndrome 5
  • Joubert syndrome
  • Meckel syndrome
  • Meckel-Gruber syndrome
Tags
Green List (high evidence)
RPGRIP1L
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 7
  • Meckel syndrome 5
  • Joubert syndrome
  • Meckel syndrome
  • Meckel-Gruber syndrome
Tags
Green List (high evidence)
SBDS
Skeletal ciliopathies v6.5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Skeletal Ciliopathies
Tags
Green List (high evidence)
SCLT1
Neurological ciliopathies v6.13
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36)
  • No OMIM phenotype
Tags
  • gene-checked
Green List (high evidence)
SCLT1
Ophthalmological ciliopathies v5.11
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36)
  • No OMIM phenotype
Tags
  • gene-checked
Green List (high evidence)
SDCCAG8
Ophthalmological ciliopathies v5.11
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
Tags
Green List (high evidence)
SDCCAG8
Renal ciliopathies v4.7
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
Tags
Green List (high evidence)
SUFU
Ophthalmological ciliopathies v5.11
5 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Joubert syndrome 32, OMIM:617757
Tags
Green List (high evidence)
SUFU
Neurological ciliopathies v6.13
5 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 32, OMIM:617757
Tags
Green List (high evidence)
TBC1D32
Ophthalmological ciliopathies v5.11
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Orofaciodigital syndrome IX, OMIM:258865
  • orofaciodigital syndrome IX, MONDO:0009795
  • Alsahan-Harris syndrome, OMIM:621307
  • Alsahan-Harris syndrome, MONDO:0979871
Tags
Green List (high evidence)
TCTEX1D2
Skeletal ciliopathies v6.5
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
  • Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
  • Jeune asphyxiating thoracic dystrophy
  • JATD
Tags
  • new-gene-name
Green List (high evidence)
TCTN1
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome
Tags
Green List (high evidence)
TCTN1
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome
Tags
Green List (high evidence)
TCTN1
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
Tags
Green List (high evidence)
TCTN2
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 24
  • Joubert syndrome, Meckel-Gruber syndrome
Tags
Green List (high evidence)
TCTN2
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 24
  • Joubert syndrome, Meckel-Gruber syndrome
Tags
Green List (high evidence)
TCTN2
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 24
  • Joubert syndrome, Meckel-Gruber syndrome
Tags
Green List (high evidence)
TCTN3
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Orofaciodigital syndrome IV
  • Joubert syndrome 18
  • Meckel-Gruber
  • Mohr-Majewski syndrome
Tags
Green List (high evidence)
TCTN3
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Orofaciodigital syndrome IV
  • Joubert syndrome 18
  • Meckel-Gruber
  • Mohr-Majewski syndrome
Tags
Green List (high evidence)
TCTN3
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Orofaciodigital syndrome IV
  • Joubert syndrome 18
  • Meckel-Gruber
  • Mohr-Majewski syndrome
Tags
Green List (high evidence)
TMEM107
Neurological ciliopathies v6.13
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meckel syndrome 13 617562
  • ?Joubert syndrome 29 617562
  • Orofaciodigital syndrome XVI 617563
Tags
Green List (high evidence)
TMEM107
Ophthalmological ciliopathies v5.11
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Meckel syndrome 13, 617562
  • ?Joubert syndrome 29, 617562
  • Orofaciodigital syndrome XVI, 617563
Tags
Green List (high evidence)
TMEM107
Renal ciliopathies v4.7
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Meckel syndrome 13 617562
  • ?Joubert syndrome 29 617562
  • Orofaciodigital syndrome XVI 617563
Tags
Green List (high evidence)
TMEM138
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 16
Tags
Green List (high evidence)
TMEM138
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 16
Tags
Green List (high evidence)
TMEM138
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 16
Tags
Green List (high evidence)
TMEM216
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome: Meckel-Gruber syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
  • Joubert syndrome 2
Tags
Green List (high evidence)
TMEM216
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome: Meckel-Gruber syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
  • Joubert syndrome 2
Tags
Green List (high evidence)
TMEM216
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome: Meckel-Gruber syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
  • Joubert syndrome 2
Tags
Green List (high evidence)
TMEM218
Neurological ciliopathies v6.13
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 39, OMIM:619562
Tags
  • gene-checked
Green List (high evidence)
TMEM218
Ophthalmological ciliopathies v5.11
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 39, OMIM:619562
Tags
  • gene-checked
Green List (high evidence)
TMEM231
Ophthalmological ciliopathies v5.11
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 20
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 20, 614970
  • Meckel syndrome 11, 615397
Tags
Green List (high evidence)
TMEM231
Neurological ciliopathies v6.13
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 20
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 20, 614970
  • Meckel syndrome 11, 615397
Tags
Green List (high evidence)
TMEM231
Renal ciliopathies v4.7
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 20
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 20, 614970
  • Meckel syndrome 11, 615397
Tags
Green List (high evidence)
TMEM237
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 14
Tags
Green List (high evidence)
TMEM237
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 14
Tags
Green List (high evidence)
TMEM237
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 14
Tags
Green List (high evidence)
TMEM67
Ophthalmological ciliopathies v5.11
6 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome
  • nephronophthisis
  • COACH syndrome
  • Joubert syndrome 6
  • ?Bardet-Biedl syndrome?
  • Senior-Boichis syndrome
  • 613550
  • 607361
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • 610688
  • Nephronophthisis 11
  • 216360
Tags
Green List (high evidence)
TMEM67
Neurological ciliopathies v6.13
6 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • nephronophthisis
  • COACH syndrome
  • Joubert syndrome 6
  • ?Bardet-Biedl syndrome?
  • Senior-Boichis syndrome
  • 613550
  • 607361
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • 610688
  • Nephronophthisis 11
  • 216360
Tags
Green List (high evidence)
TMEM67
Renal ciliopathies v4.7
6 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome
  • nephronophthisis
  • COACH syndrome
  • Joubert syndrome 6
  • ?Bardet-Biedl syndrome?
  • Senior-Boichis syndrome
  • 613550
  • 607361
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • 610688
  • Nephronophthisis 11
  • 216360
Tags
Green List (high evidence)
TOGARAM1
Neurological ciliopathies v6.13
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 37, OMIM:619185
  • Joubert syndrome 37, MONDO:0030933
Tags
Green List (high evidence)
TRAF3IP1
Renal ciliopathies v4.7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
Phenotypes
  • Senior-Loken syndrome 9 616629
Tags
Green List (high evidence)
TRAF3IP1
Ophthalmological ciliopathies v5.11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
Phenotypes
  • Senior-Loken syndrome 9 616629
Tags
Green List (high evidence)
TTC21B
Renal ciliopathies v4.7
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis 12, 613820
  • Short-rib thoracic dysplasia 4 with or without polydactyly
  • Jeune syndrome
  • Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
  • Nephronophthisis
Tags
  • watchlist_moi
Green List (high evidence)
TTC21B
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis 12, 613820
  • Short-rib thoracic dysplasia 4 with or without polydactyly
  • Jeune syndrome
  • Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
  • Nephronophthisis
Tags
Green List (high evidence)
TTC8
Ophthalmological ciliopathies v5.11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 8
Tags
Green List (high evidence)
TTC8
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 8
Tags
Green List (high evidence)
TXNDC15
Renal ciliopathies v4.7
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Meckel syndrome 14, OMIM:619879
Tags
  • gene-checked
Green List (high evidence)
TXNDC15
Neurological ciliopathies v6.13
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Meckel syndrome 14, OMIM:619879
Tags
  • gene-checked
Green List (high evidence)
VPS13B
Neurological ciliopathies v6.13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cohen syndrome, 216550
  • COHEN SYNDROME
Tags
Green List (high evidence)
VPS13B
Ophthalmological ciliopathies v5.11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cohen syndrome, 216550
  • COHEN SYNDROME
Tags
Green List (high evidence)
WDPCP
Ophthalmological ciliopathies v5.11
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • ?Bardet-Biedl syndrome 15, 615992
  • Meckel syndrome
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Tags
Green List (high evidence)
WDPCP
Renal ciliopathies v4.7
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • ?Bardet-Biedl syndrome 15, 615992
  • Meckel syndrome
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Tags
Green List (high evidence)
WDR19
Renal ciliopathies v4.7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis 13, 614377
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly
  • Senior-Loken syndrome 8, 616307
  • Cranioectodermal dysplasia
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
  • Jeune syndrome
  • Senior-Loken syndrome
  • ?Cranioectodermal dysplasia 4, 614378
  • Nephronophthisis
Tags
Green List (high evidence)
WDR19
Skeletal ciliopathies v6.5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis 13, 614377
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly
  • Senior-Loken syndrome 8, 616307
  • Cranioectodermal dysplasia
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
  • Jeune syndrome
  • Senior-Loken syndrome
  • ?Cranioectodermal dysplasia 4, 614378
  • Nephronophthisis
Tags
Green List (high evidence)
WDR19
Ophthalmological ciliopathies v5.11
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis 13, 614377
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly
  • Senior-Loken syndrome 8, 616307
  • Cranioectodermal dysplasia
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
  • Jeune syndrome
  • Senior-Loken syndrome
  • ?Cranioectodermal dysplasia 4, 614378
  • Nephronophthisis
Tags
Green List (high evidence)
WDR34
Skeletal ciliopathies v6.5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly
  • Jeune syndrome
  • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
Tags
  • new-gene-name
Green List (high evidence)
WDR35
Renal ciliopathies v4.7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Cranioectodermal dysplasia 2, 613610
  • Cranioectodermal dysplasia
  • Short-rib thoracic dysplasia 7 with or without polydactyly
  • Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Tags
Green List (high evidence)
WDR35
Skeletal ciliopathies v6.5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Cranioectodermal dysplasia 2, 613610
  • Cranioectodermal dysplasia
  • Short-rib thoracic dysplasia 7 with or without polydactyly
  • Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Tags
Green List (high evidence)
WDR60
Skeletal ciliopathies v6.5
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
  • Short-rib thoracic dysplasia 8 with or without polydactyly
  • Jeune syndrome
  • SHORT-RIB POLYDACTYLY
Tags
  • new-gene-name
Green List (high evidence)
WDR60
Renal ciliopathies v4.7
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
  • Short-rib thoracic dysplasia 8 with or without polydactyly
  • Jeune syndrome
  • SHORT-RIB POLYDACTYLY
Tags
  • new-gene-name
Green List (high evidence)
XPNPEP3
Renal ciliopathies v4.7
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis-like nephropathy 1 OMIM:613159
  • nephronophthisis-like nephropathy 1 MONDO:0013163
Tags
Green List (high evidence)
ZSWIM6
Neurological ciliopathies v6.13
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Acromelic frontonasal dysostosis 603671
Tags
Green List (high evidence)
ZSWIM6
Skeletal ciliopathies v6.5
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acromelic frontonasal dysostosis 603671
Tags
Amber List (moderate evidence)
ADAMTS9
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Nephronophthisis-Related Ciliopathy
Tags
Amber List (moderate evidence)
ARL3
Neurological ciliopathies v6.13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Joubert syndrome 35, OMIM:61816
Tags
  • watchlist
Amber List (moderate evidence)
BBIP1
Renal ciliopathies v4.7
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 18, 615995
Tags
Amber List (moderate evidence)
CEP55
Renal ciliopathies v4.7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Meckel-like syndrome
  • autosomal recessive lethal ciliopathy
  • renal dysplasia
Tags
Amber List (moderate evidence)
CYS1
Renal ciliopathies v4.7
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Polycystic kidney disease, MONDO:0020642
Tags
  • watchlist
Amber List (moderate evidence)
DCDC2
Renal ciliopathies v4.7
7 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Orphanet
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neonatal sclerosing cholangitis
  • Nephronophthisis 19, 616217
Tags
Amber List (moderate evidence)
GRK2
Skeletal ciliopathies v6.5
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Jeune syndrome, MONDO:0018770
Tags
Amber List (moderate evidence)
KIAA0556
Ophthalmological ciliopathies v5.11
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Joubert syndrome 26, OMIM:616784
  • Joubert syndrome 26, MONDO:0014771
Tags
  • new-gene-name
  • Q3_25_promote_green
Amber List (moderate evidence)
KIAA0556
Neurological ciliopathies v6.13
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Joubert syndrome 26, OMIM:616784
  • Joubert syndrome 26, MONDO:0014771
Tags
  • new-gene-name
  • Q3_25_promote_green
Amber List (moderate evidence)
KIF14
Renal ciliopathies v4.7
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Orphanet
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Meckel syndrome 12, OMIM:616258
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Tags
  • watchlist
Amber List (moderate evidence)
KIF3B
Ophthalmological ciliopathies v5.11
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • hepatic fibrosis
  • Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071
  • postaxial polydactyly
Tags
  • watchlist
Amber List (moderate evidence)
LRRC45
Ophthalmological ciliopathies v5.11
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ciliopathy, MONDO:0005308
  • Abnormal brain morphology, HP:0012443
  • neurodevelopmental disorder, MONDO:0700092
Tags
Amber List (moderate evidence)
LRRC45
Neurological ciliopathies v6.13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ciliopathy, MONDO:0005308
  • Abnormal brain morphology, HP:0012443
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q4_25_promote_green
Amber List (moderate evidence)
NEK1
Renal ciliopathies v4.7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Tags
  • watchlist
Amber List (moderate evidence)
PDIA6
Renal ciliopathies v4.7
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Tags
Amber List (moderate evidence)
PDIA6
Skeletal ciliopathies v6.5
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Tags
Amber List (moderate evidence)
POC1B
Ophthalmological ciliopathies v5.11
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • UKGTN
  • Expert Review Amber
Phenotypes
  • Senior-Loken Syndrome 24 gene panel
  • Cone-rod dystrophy 20 615973
  • Joubert Syndrome
  • AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
Tags
Amber List (moderate evidence)
POC1B
Neurological ciliopathies v6.13
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
Phenotypes
  • Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
  • Joubert Syndrome
  • Senior-Loken Syndrome
Tags
Amber List (moderate evidence)
POC5
Ophthalmological ciliopathies v5.11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal dystrophy
  • diabetes mellitus
  • lipodystrophy
  • renal failure
  • abnormal muscle physiology
Tags
  • Q3_25_promote_green
Amber List (moderate evidence)
SCLT1
Renal ciliopathies v4.7
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Orofaciodigital syndrome type IX
  • Senior-Loken syndrome
Tags
Amber List (moderate evidence)
SUFU
Skeletal ciliopathies v6.5
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Joubert syndrome 32, OMIM:617757
Tags
  • watchlist
Amber List (moderate evidence)
ZNF423
Neurological ciliopathies v6.13
4 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Joubert syndrome 19, OMIM:614844
  • Nephronophthisis 14, OMIM:614844
Tags
Amber List (moderate evidence)
ZNF423
Ophthalmological ciliopathies v5.11
2 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 19, OMIM:614844
  • Nephronophthisis 14, OMIM:614844
Tags
Amber List (moderate evidence)
ZNF423
Renal ciliopathies v4.7
5 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 19, OMIM:614844
  • Nephronophthisis 14, OMIM:614844
Tags
Red List (low evidence)
AIPL1
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
Red List (low evidence)
ARMC9
Renal ciliopathies v4.7
5 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Joubert syndrome 30, OMIM:617622
Tags
Red List (low evidence)
B9D1
Renal ciliopathies v4.7
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
Tags
Red List (low evidence)
B9D1
Ophthalmological ciliopathies v5.11
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
Tags
Red List (low evidence)
B9D1
Neurological ciliopathies v6.13
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
Tags
Red List (low evidence)
B9D1
Skeletal ciliopathies v6.5
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
Tags
Red List (low evidence)
BBIP1
Ophthalmological ciliopathies v5.11
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 List (low evidence)
C2orf71
Ophthalmological ciliopathies v5.11
2 reviews
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
Red List (low evidence)
C8orf37
Renal ciliopathies v4.7
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Bardet-Biedl syndrome 21, 617406
Tags
  • new-gene-name
Red List (low evidence)
CCDC28B
Neurological ciliopathies v6.13
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Joubert syndrome, MONDO:0018772
Tags
Red List (low evidence)
CCDC28B
Renal ciliopathies v4.7
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Red
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ciliopathies
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
Tags
Red List (low evidence)
CCDC28B
Ophthalmological ciliopathies v5.11
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Red
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ciliopathies
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
Tags
Red List (low evidence)
CRB1
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
Red List (low evidence)
CRX
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
Red List (low evidence)
EXOC3L2
Renal ciliopathies v4.7
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert Review Red
  • Expert list
Phenotypes
  • Brain malformation renal syndrome, OMIM:620943
Tags
Red List (low evidence)
EXOC8
Renal ciliopathies v4.7
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 List (low evidence)
EXOC8
Ophthalmological ciliopathies v5.11
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 List (low evidence)
EXOC8
Neurological ciliopathies v6.13
1 review
1 red 		Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
Tags
Red List (low evidence)
GUCY2D
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
Red List (low evidence)
IFT74
Renal ciliopathies v4.7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Bardet-Biedl syndrome 20, 617119
Tags
Red List (low evidence)
IMPDH1
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
Red List (low evidence)
KCNJ13
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
Red List (low evidence)
KIAA0556
Renal ciliopathies v4.7
5 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Joubert syndrome 26, OMIM:616784
  • Joubert syndrome 26, MONDO:0014771
Tags
  • new-gene-name
Red List (low evidence)
KIF14
Neurological ciliopathies v6.13
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Meckel syndrome 12, OMIM:616258
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Tags
Red List (low evidence)
LCA5
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leber congenital amaurosis 5, 604537
  • Ciliopathies
Tags
Red List (low evidence)
LRAT
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
Red List (low evidence)
MUC1
Renal ciliopathies v4.7
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 List (low evidence)
PDE6D
Ophthalmological ciliopathies v5.11
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • ?Joubert syndrome 22
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
  • ?Joubert syndrome 22, 615665
Tags
Red List (low evidence)
PDE6D
Renal ciliopathies v4.7
5 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • ?Joubert syndrome 22
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
  • ?Joubert syndrome 22, 615665
Tags
Red List (low evidence)
PDE6D
Neurological ciliopathies v6.13
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Joubert syndrome 22
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
  • ?Joubert syndrome 22, 615665
Tags
Red List (low evidence)
PIBF1
Renal ciliopathies v4.7
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
  • Literature
  • Research
Phenotypes
  • Joubert syndrome
  • ataxia
  • vermis hypoplasia
  • developmental delay
  • thick superior cerebellar peduncles
  • superior cerebellar dysplasia
Tags
Red List (low evidence)
PIBF1
Ophthalmological ciliopathies v5.11
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
  • Literature
  • Research
Phenotypes
  • Joubert syndrome
  • ataxia
  • vermis hypoplasia
  • developmental delay
  • thick superior cerebellar peduncles
  • superior cerebellar dysplasia
Tags
Red List (low evidence)
PMM2
Skeletal ciliopathies v6.5
4 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Red List (low evidence)
RABL2A
Neurological ciliopathies v6.13
1 review
1 red 		Unknown
Sources
  • Literature
Phenotypes
  • neural tube defects
Tags
Red List (low evidence)
RABL2A
Skeletal ciliopathies v6.5
1 review
1 red 		Unknown
Sources
  • Literature
Phenotypes
  • polydactyly
  • growth retardation
Tags
Red List (low evidence)
RD3
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
Red List (low evidence)
RDH12
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
Red List (low evidence)
RPE65
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
Red List (low evidence)
RPGR
Ophthalmological ciliopathies v5.11
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
  • Expert list
  • Emory Genetics Laboratory
Tags
Red List (low evidence)
RPGRIP1
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Orphanet
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome
  • Ciliopathies
Tags
Red List (low evidence)
SEC63
Renal ciliopathies v4.7
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 List (low evidence)
SLC41A1
Renal ciliopathies v4.7
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Nephronophthisis
Tags
Red List (low evidence)
SPATA7
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leber congenital amaurosis 3, 604232
  • Ciliopathies
  • Retinitis pigmentosa, juvenile, autosomal recessive, 604232
Tags
Red List (low evidence)
TAPT1
Neurological ciliopathies v6.13
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Tags
Red List (low evidence)
TAPT1
Skeletal ciliopathies v6.5
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 List (low evidence)
TBC1D32
Neurological ciliopathies v6.13
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Orofaciodigital syndrome IX, OMIM:258865
  • orofaciodigital syndrome IX, MONDO:0009795
  • Alsahan-Harris syndrome, OMIM:621307
  • Alsahan-Harris syndrome, MONDO:0979871
Tags
Red List (low evidence)
TBC1D32
Skeletal ciliopathies v6.5
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Orofaciodigital syndrome IX, OMIM:258865
  • orofaciodigital syndrome IX, MONDO:0009795
  • Alsahan-Harris syndrome, OMIM:621307
  • Alsahan-Harris syndrome, MONDO:0979871
Tags
Red List (low evidence)
TOPORS
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Tags
Red List (low evidence)
TRIM32
Ophthalmological ciliopathies v5.11
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Red
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Bardet-Biedl syndrome 11, 615988
  • Muscular dystrophy, limb-girdle, type 2H, 254110
Tags
Red List (low evidence)
TRIM32
Renal ciliopathies v4.7
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Red
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Bardet-Biedl syndrome 11, 615988
  • Muscular dystrophy, limb-girdle, type 2H, 254110
Tags
Red List (low evidence)
TULP1
Ophthalmological ciliopathies v5.11
1 review
 Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Retinitis pigmentosa 14, 600132
  • Leber congenital amaurosis 15, 613843
  • Ciliopathies
Tags
Red List (low evidence)
UMOD
Renal ciliopathies v4.7
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Tags
Red List (low evidence)
WDR63
Neurological ciliopathies v6.13
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • occipital encephalocele and inconsistent brain lobulation
  • ciliopathy-like disorder
Tags
  • new-gene-name
No list
ARL6
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • {Bardet Biedl syndrome 1, modifier of}
  • Bardet-Biedl Syndrome
  • 268000
  • Bardet Biedl syndrome 3
Tags
  • curated_removed
No list
BBIP1
Skeletal ciliopathies v6.5
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 18, 615995
Tags
  • curated_removed
No list
BBS1
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Bardet Biedl syndrome 13
  • 268000
  • Bardet Biedl syndrome 1
  • Bardet Biedl syndrome 11
Tags
  • curated_removed
No list
BBS10
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Bardet Biedl syndrome 10
Tags
  • curated_removed
No list
BBS12
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Bardet Biedl syndrome 12
Tags
  • curated_removed
No list
BBS2
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Bardet Biedl syndrome 2
Tags
  • curated_removed
No list
BBS4
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Bardet Biedl syndrome 4
Tags
  • curated_removed
No list
BBS5
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Bardet Biedl syndrome 5
Tags
  • curated_removed
No list
BBS7
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Bardet Biedl syndrome 7
Tags
  • curated_removed
No list
BBS9
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Bardet Biedl syndrome 9
Tags
  • curated_removed
No list
C8orf37
Skeletal ciliopathies v6.5
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Bardet-Biedl syndrome 21, 617406
Tags
  • curated_removed
  • new-gene-name
No list
CCDC28B
Skeletal ciliopathies v6.5
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ciliopathies
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
Tags
  • curated_removed
No list
CENPF
Skeletal ciliopathies v6.5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Orphanet
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stromme syndrome, OMIM:243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
  • curated_removed
No list
DDX59
Skeletal ciliopathies v6.5
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
  • curated_removed
No list
IFT27
Skeletal ciliopathies v6.5
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 19, 615996
Tags
  • curated_removed
No list
IFT74
Skeletal ciliopathies v6.5
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • ?Bardet-Biedl syndrome 20, 617119
Tags
  • curated_removed
No list
LZTFL1
Skeletal ciliopathies v6.5
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 17, 615994
Tags
  • curated_removed
No list
MKKS
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Bardet Biedl syndrome 6
  • 236700
Tags
  • curated_removed
No list
MKS1
Skeletal ciliopathies v6.5
6 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Other
Phenotypes
  • occipital encephalocele
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • Joubert syndrome 28
  • 249000
  • polydactyly
  • polycystic kidneys
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • renal fibrosis
Tags
  • curated_removed
No list
SCLT1
Skeletal ciliopathies v6.5
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Senior-L ken Syndrome
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX
Tags
  • curated_removed
No list
SDCCAG8
Skeletal ciliopathies v6.5
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Orphanet
  • Expert list
Phenotypes
  • SENIOR-LOKEN SYNDROME
  • Bardet-Biedl Syndrome
  • 613615
  • Senior-Loken syndrome
Tags
  • curated_removed
No list
TRIM32
Skeletal ciliopathies v6.5
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Bardet-Biedl syndrome 11, 615988
  • Muscular dystrophy, limb-girdle, type 2H, 254110
Tags
  • curated_removed
No list
TTC8
Skeletal ciliopathies v6.5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Bardet Biedl syndrome 8
Tags
  • curated_removed
No list
TXNDC15
Skeletal ciliopathies v6.5
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
  • Expert list
Phenotypes
  • MGS
  • Meckel-Gruber syndrome
Tags
  • curated_removed
No list
WDPCP
Skeletal ciliopathies v6.5
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • ?Bardet-Biedl syndrome 15, 615992
  • Meckel syndrome
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Tags
  • curated_removed

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

Download Version