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

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

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

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

14 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Penny Clouston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Beth Hoskins (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Andrea Nemeth (University of Oxford)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Gabrielle Wheway (University of the West of England)

    Group: GeCIP domain
    Workplace: Research lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

57 Entities

57 reviewed, 43 green

List Entity Reviews Mode of inheritance Details
57 Entitiess
Green Green List (high evidence)
AHI1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 3
  • Joubert syndrome
  • Joubert syndrome-3.
Tags
Green Green List (high evidence)
ARL13B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 8
Tags
Green Green List (high evidence)
ARMC9
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 30, 617622
Tags
Green Green List (high evidence)
B9D2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Meckel syndrome 10, 614175
  • ciliopathies
  • Meckel syndrome
Tags
Green Green List (high evidence)
C2CD3
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 Green List (high evidence)
C5orf42
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
Green Green List (high evidence)
CC2D2A
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 Green List (high evidence)
CENPF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Stromme syndrome, 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green Green List (high evidence)
CEP104
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
Tags
Green Green List (high evidence)
CEP290
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 Green List (high evidence)
CEP41
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 15
Tags
Green Green List (high evidence)
CRB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Tags
Green Green List (high evidence)
CSPP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Meckel syndrome
  • Joubert syndrome 21
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
DDX59
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
Green Green List (high evidence)
DHCR7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Tags
Green Green List (high evidence)
EVC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • Weyers acrodental dysostosis, 193530
Tags
Green Green List (high evidence)
EVC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • Weyers acrofacial dysostosis, 193530
Tags
Green Green List (high evidence)
GLI3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Tags
Green Green List (high evidence)
HYLS1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Hydrolethalus syndrome, 236680
Tags
Green Green List (high evidence)
ICK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • short-rib thoracic dysplasia with polydactyly (SRTD)
  • Endocrine-cerebroosteodysplasia, 612651
  • ECO
Tags
  • new-gene-name
Green Green List (high evidence)
INPP5E
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 1
Tags
Green Green List (high evidence)
KIAA0586
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 Green List (high evidence)
KIAA0753
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome XV 617127
Tags
Green Green List (high evidence)
KIF7
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 12 200990
  • Acrocallosal syndrome 200990
Tags
Green Green List (high evidence)
MKS1
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 Green List (high evidence)
NPHP1
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 Green List (high evidence)
NPHP3
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 Green List (high evidence)
OFD1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 10
  • X-linked Joubert syndrome
  • Orofaciodigital syndrome I
Tags
Green Green List (high evidence)
PMM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green Green List (high evidence)
RPGRIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 7
  • Meckel syndrome 5
  • Joubert syndrome
  • Meckel syndrome
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
SCLT1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36)
  • No OMIM phenotype
Tags
Green Green List (high evidence)
TCTN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
Tags
Green Green List (high evidence)
TCTN2
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 Green List (high evidence)
TCTN3
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 Green List (high evidence)
TMEM107
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 Green List (high evidence)
TMEM138
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 16
Tags
Green Green List (high evidence)
TMEM216
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome: Meckel-Gruber syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
  • Joubert syndrome 2
Tags
Green Green List (high evidence)
TMEM231
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 20
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 20, 614970
  • Meckel syndrome 11, 615397
Tags
Green Green List (high evidence)
TMEM237
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 Green List (high evidence)
TMEM67
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 Green List (high evidence)
TXNDC15
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • MGS
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
VPS13B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cohen syndrome, 216550
  • COHEN SYNDROME
Tags
Green Green List (high evidence)
ZSWIM6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Acromelic frontonasal dysostosis 603671
Tags
Amber Amber List (moderate evidence)
FAM149B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome
  • oral-facial-digital syndrome
  • OFD VI
Tags
Amber Amber List (moderate evidence)
POC1B
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
  • Joubert Syndrome
  • Senior-Loken Syndrome
Tags
Amber Amber List (moderate evidence)
SUFU
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Joubert syndrome 32, 617757
Tags
Amber Amber List (moderate evidence)
ZNF423
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Nephronophthisis 14
  • Joubert syndrome 19, 614844
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 19
  • Nephronophthisis 14, 614844
Tags
Red Red List (low evidence)
B9D1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Meckel syndrome 9, 614209
  • ciliopathies
  • Meckel syndrome
  • Joubert syndrome 27
Tags
Red Red List (low evidence)
EXOC3L2
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Dandy-Walker malformation
  • enlarged echogenic kidneys
  • echogenic kidneys
  • hydrocephalus
  • anhydramnios
Tags
Red Red List (low evidence)
EXOC8
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 Red List (low evidence)
KIAA0556
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Joubert syndrome 26
Tags
Red Red List (low evidence)
KIF14
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Meckel syndrome 12, 616258
  • complex brain malformation
  • ?Meckel syndrome 12
  • intrauterine growth restriction (IUGR)
  • microcephaly
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
  • genitourinary malformation
  • renal cystic dysplasia/agenesis
Tags
Red Red List (low evidence)
PDE6D
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 Red List (low evidence)
PIBF1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Joubert syndrome
  • ataxia
  • vermis hypoplasia
  • developmental delay
  • thick superior cerebellar peduncles
  • superior cerebellar dysplasia
Tags
Red Red List (low evidence)
TAPT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Tags
Red Red List (low evidence)
TBC1D32
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)
Tags
Red Red List (low evidence)
WDR63
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • occipital encephalocele and inconsistent brain lobulation
  • ciliopathy-like disorder
Tags

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