PanelApp
  1. Panels
  2. Skeletal Ciliopathies
Description
This panel was developed and is maintained by VCGS. 

This panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).

It has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.

Consider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.
Panel Activity

7 reviewers

  • Chirag Patel (Genetic Health Queensland)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Sarah Milton (Victorian Clinical Genetics Services)

37 Entities

37 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
37 Entitiess
Green Green List (high evidence)
C21orf2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylometaphyseal dysplasia, axial, MIM# 602271
Tags
  • new gene name
Green Green List (high evidence)
C2CD3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome XIV, MIM# 615948
  • MONDO:0014413
Tags
Green Green List (high evidence)
CEP120
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
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)
DHCR7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Smith-Lemli-Opitz syndrome, MIM# 270400
Tags
Green Green List (high evidence)
DYNC2H1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
  • MONDO:0013127
Tags
Green Green List (high evidence)
DYNC2LI1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)
Tags
Green Green List (high evidence)
EVC
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ellis-van Creveld syndrome, MIM# 225500
Tags
Green Green List (high evidence)
EVC2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ellis-van Creveld syndrome (MIM#225500)
Tags
Green Green List (high evidence)
FUZ
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy_MONDO_0005308, FUZ-related
  • skeletal ciliopathy
Tags
Green Green List (high evidence)
GLI3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Greig cephalopolysyndactyly syndrome, MIM# 175700
  • Polydactyly
Tags
Green Green List (high evidence)
GRK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770
Tags
Green Green List (high evidence)
ICK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Endocrine-cerebroosteodysplasia (MIM#612651)
Tags
Green Green List (high evidence)
IFT122
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cranioectodermal dysplasia 1, MIM# 218330
  • MONDO:0021093
  • Beemer-Langer syndrome
Tags
Green Green List (high evidence)
IFT140
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
  • MONDO:0009964
Tags
Green Green List (high evidence)
IFT172
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Tags
Green Green List (high evidence)
IFT43
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866
  • Cranioectodermal dysplasia 3, MIM# 614099
Tags
Green Green List (high evidence)
IFT52
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102
Tags
Green Green List (high evidence)
IFT74
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Jeune syndrome (MONDO:0018770), IFT74-related
Tags
Green Green List (high evidence)
IFT80
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263
  • MONDO:0012644
Tags
Green Green List (high evidence)
IFT81
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Tags
Green Green List (high evidence)
KIAA0753
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479
Tags
Green Green List (high evidence)
LBR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Greenberg skeletal dysplasia, MIM#215140
Tags
Green Green List (high evidence)
NEK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Tags
Green Green List (high evidence)
PDIA6
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • multiple congenital anomalies, MONDO:0019042, PDIA6-related
Tags
Green Green List (high evidence)
PIK3C2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Oculoskeletodental syndrome, MIM# 618440
Tags
Green Green List (high evidence)
RAB34
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome 20, MIM#620718
Tags
Green Green List (high evidence)
TCTEX1D2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Tags
Green Green List (high evidence)
TTC21B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 4 with or without polydactyly (MIM#613819)
Tags
Green Green List (high evidence)
WDR34
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633
Tags
Green Green List (high evidence)
WDR35
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
  • MONDO:0013569
Tags
Green Green List (high evidence)
WDR60
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503
  • Retinitis pigmentosa
Tags
Amber Amber List (moderate evidence)
HYLS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hydrolethalus syndrome, MIM# 236680
Tags
Amber Amber List (moderate evidence)
KIAA0586
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546
Tags
Amber Amber List (moderate evidence)
KIF7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrocallosal syndrome, MIM# 200990
  • Joubert syndrome 12, MIM# 200990
Tags
Amber Amber List (moderate evidence)
OFD1
1 review
 Other
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome I, MIM# 311200
Tags
Amber Amber List (moderate evidence)
WDR19
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376
Tags

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