PanelApp (stage)
  1. Panels
  2. Joubert syndrome and other neurological ciliopathies
Description
This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.

Please consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.
Panel Activity

8 reviewers

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Hazel Phillimore (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

68 Entities

68 reviewed, 41 green

List Entity Reviews Mode of inheritance Details
68 Entitiess
Green Green List (high evidence)
AHI1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 3, MIM# 608629
Tags
Green Green List (high evidence)
ARL13B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 8, MIM# 612291
Tags
Green Green List (high evidence)
ARL3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 35 MIM#618161
Tags
Green Green List (high evidence)
ARMC9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Joubert syndrome 30, MIM# 617622
Tags
Green Green List (high evidence)
B9D2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 34, MIM# 614175
  • Meckel syndrome 10, MIM# 614175
Tags
Green Green List (high evidence)
C2CD3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome XIV 615948
Tags
Green Green List (high evidence)
C5orf42
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 17, MIM# 614615
  • MONDO:0013824
  • Orofaciodigital syndrome VI, MIM# 277170
Tags
  • new gene name
Green Green List (high evidence)
CBY1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • intellectual disability
  • cerebellar ataxia
  • molar tooth sign
  • polydactyly
  • Joubert syndrome
Tags
Green Green List (high evidence)
CC2D2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 9, MIM# 612285
  • Meckel syndrome 6, MIM# 612284
  • COACH syndrome 2, MIM# 619111
Tags
Green Green List (high evidence)
CEP104
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Joubert syndrome 25, MIM# 616781
  • MONDO:0014770
Tags
Green Green List (high evidence)
CEP120
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Joubert syndrome 31, MIM# 617761
Tags
Green Green List (high evidence)
CEP290
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 5, MIM# 610188
  • Meckel syndrome 4, MIM# 611134
Tags
Green Green List (high evidence)
CEP41
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 15, MIM# 614464
Tags
Green Green List (high evidence)
CSPP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 21, MIM# 615636
  • MONDO:0014288
Tags
Green Green List (high evidence)
DDX59
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome V (MIM#174300)
Tags
Green Green List (high evidence)
FAM149B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert
  • Ciliopathy
Tags
Green Green List (high evidence)
IFT74
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 40, MIM# 619582
Tags
Green Green List (high evidence)
INPP5E
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 1, MIM# 213300
  • MONDO:0008944
Tags
Green Green List (high evidence)
KIAA0556
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Joubert syndrome 26, MIM# 616784
Tags
  • new gene name
Green Green List (high evidence)
KIAA0586
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 23 616490
  • Short-rib thoracic dysplasia 14 with polydactyly 616546
Tags
  • new gene name
Green Green List (high evidence)
KIAA0753
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • ?Orofaciodigital syndrome XV 617127
  • Joubert syndrome 38, MIM# 619476
Tags
Green Green List (high evidence)
KIF7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 12, MIM# 200990
  • Acrocallosal syndrome, MIM# 200990
  • MONDO:0008708
  • Hydrolethalus syndrome 2, MIM# 614120
Tags
Green Green List (high evidence)
LAMA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Poretti-Boltshauser syndrome, MIM# 615960
Tags
Green Green List (high evidence)
MKS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 28, MIM# 617121
  • MONDO:0014928
  • Meckel syndrome 1, MIM# 249000
  • MONDO:0009571
Tags
Green Green List (high evidence)
NPHP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 4, MIM# 609583
Tags
Green Green List (high evidence)
OFD1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 10, MIM# 300804
Tags
Green Green List (high evidence)
PDE6D
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 22, OMIM #615665
Tags
Green Green List (high evidence)
PIBF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Joubert syndrome 33, OMIM #617767
Tags
Green Green List (high evidence)
RPGRIP1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 7, MIM# 611560
  • Meckel syndrome 5, MIM# 611561
Tags
Green Green List (high evidence)
SUFU
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 32, MIM#617757
  • SUFU-related neurodevelopmental disorder, Joubert-like
Tags
Green Green List (high evidence)
TCTN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 13, MIM# 614173
  • MONDO:0013608
Tags
Green Green List (high evidence)
TCTN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 24, MIM# 616654
  • MONDO:0014724
  • Meckel syndrome 8, MIM# 613885
  • MONDO:0013482
Tags
Green Green List (high evidence)
TCTN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 18, MIM# 614815
  • MONDO:0013896
Tags
Green Green List (high evidence)
TMEM138
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 16, MIM# 614465
  • MONDO:0013764
Tags
Green Green List (high evidence)
TMEM216
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 2, MIM# 608091
  • MONDO:0011963
  • Meckel syndrome 2, MIM# 603194
  • MONDO:0011296
Tags
  • founder
Green Green List (high evidence)
TMEM218
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 39, MIM#619562
  • retinal dystrophy
  • polycystic kidneys
  • occipital encephalocele
Tags
Green Green List (high evidence)
TMEM231
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 20, MIM# 614970
  • MONDO:0013994
  • Meckel syndrome 11, MIM# 615397
  • MONDO:0014164
Tags
Green Green List (high evidence)
TMEM237
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 14, MIM# 614424
Tags
Green Green List (high evidence)
TMEM67
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 6, MIM# 610688
  • Meckel syndrome 3, MIM# 607361
Tags
Green Green List (high evidence)
TOGARAM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 37, MIM# 619185
Tags
Green Green List (high evidence)
TXNDC15
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Meckel syndrome 14, MIM# 619879
Tags
Amber Amber List (moderate evidence)
B9D1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 9, MIM# 614209
  • Joubert syndrome 27, MIM# 617120
Tags
Amber Amber List (moderate evidence)
CCDC28B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Joubert syndrome
Tags
Amber Amber List (moderate evidence)
CENPF
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Stromme syndrome (MIM#243605)
Tags
Amber Amber List (moderate evidence)
DHCR7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Smith-Lemli-Opitz syndrome (MIM#270400)
Tags
Amber Amber List (moderate evidence)
EVC
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Ellis-van Creveld syndrome (MIM#225500)
Tags
Amber Amber List (moderate evidence)
GLI3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Greig cephalopolysyndactyly syndrome (MIM#175700)
  • Pallister-Hall syndrome (MIM#146510)
Tags
Amber Amber List (moderate evidence)
HYLS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hydrolethalus syndrome 236680
Tags
Amber Amber List (moderate evidence)
ICK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Endocrine-cerebroosteodysplasia (MIM#612651)
Tags
Amber Amber List (moderate evidence)
NID1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Dandy-Walker malformation and occipital cephalocele
  • Hydrocephalus with or without seizures
Tags
Amber Amber List (moderate evidence)
NPHP3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 7, MIM# 267010
Tags
Amber Amber List (moderate evidence)
SLC30A7
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome (MONDO:0018772), SLC30A7-related
Tags
Amber Amber List (moderate evidence)
TMEM107
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Meckel syndrome 13 (MIM#617562)
  • Orofaciodigital syndrome XVI (MIM#617563)
  • Joubert syndrome 29, MIM# 617562
Tags
Amber Amber List (moderate evidence)
TOPORS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome, MONDO:0018772, TOPORS-related
Tags
  • founder
Amber Amber List (moderate evidence)
VPS13B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Cohen syndrome (MIM# 216550)
Tags
Amber Amber List (moderate evidence)
ZNF423
1 review
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Joubert syndrome 19 (MIM#614844)
Tags
Amber Amber List (moderate evidence)
ZSWIM6
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Acromelic frontonasal dysostosis (MIM#603671)
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865
Tags
Red Red List (low evidence)
ARMC8
2 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
FOXC1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
LAMC1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
POC1B
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Cone-rod dystrophy 20 615973
Tags
Red Red List (low evidence)
SCLT1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Orofaciodigital syndrome type IX
  • Senior-Loken syndrome
  • Bardet-Biedl syndrome
Tags
Red Red List (low evidence)
TTC21B
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
VLDLR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050
Tags
Red Red List (low evidence)
WDR81
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185
  • Hydrocephalus, congenital, 3, with brain anomalies 617967
Tags
Red Red List (low evidence)
WNT1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XV (MIM#615220)
Tags
Red Red List (low evidence)
ZIC1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736)
Tags
Red Red List (low evidence)
ZIC4
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags

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