PanelApp (test)
  1. Panels
  2. Craniosynostosis
Description
This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.

This panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.
Panel Activity

11 reviewers

  • Tiong Tan (Victorian Clinical Genetics Services)

  • Chris Richmond (Genetic Health Queensland)

  • Calder Hamill (Monash Health)

  • Yetong Chen (University of Melbourne)

  • Chirag Patel (Genetic Health Queensland)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

75 Entities

reviewed, green

List Entity Reviews Mode of inheritance Details
75 Entitiess
Green Green List (high evidence)
ACTB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Baraitser-Winter syndrome 1, MIM# 243310
Tags
Green Green List (high evidence)
ACTG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Baraitser-Winter syndrome 2, MIM# 614583
Tags
Green Green List (high evidence)
AHDC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Xia-Gibbs syndrome, MIM# 615829
Tags
Green Green List (high evidence)
ALPL
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 241500 HYPOPHOSPHATASIA, INFANTILE
Tags
  • treatable
Green Green List (high evidence)
ALX4
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Frontonasal dysplasia 2 MIM#613451
  • Parietal foramina 2 MIM#609597
Tags
Green Green List (high evidence)
ARID1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Coffin-Siris syndrome 1, MIM# 135900
Tags
Green Green List (high evidence)
ARSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis VI (MPS6, MIM# 253200
Tags
Green Green List (high evidence)
ASXL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bohring-Opitz syndrome,MIM# 605039
Tags
Green Green List (high evidence)
B3GAT3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600
Tags
Green Green List (high evidence)
BCL11B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis, MONDO:0015469, BCL11B-related
Tags
Green Green List (high evidence)
BRAF
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CFC
Tags
Green Green List (high evidence)
CDC45
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Meier-Gorlin syndrome 7 MIM#617063
Tags
Green Green List (high evidence)
CDK13
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360
Tags
Green Green List (high evidence)
CHD7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CHARGE syndrome, MIM#214800
  • bi-coronal craniosynostosis, MONDO:0015469, CHD7-associated
Tags
Green Green List (high evidence)
COLEC11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 265050 3MC SYNDROME 2
Tags
Green Green List (high evidence)
CTSK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pycnodysostosis, MIM#265800
Tags
Green Green List (high evidence)
CYP26B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Tags
Green Green List (high evidence)
EFNB1
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniofrontonasal dysplasia, MIM# 304110
Tags
Green Green List (high evidence)
ERF
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis 4, MIM# 600775
Tags
Green Green List (high evidence)
FAM20C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Raine syndrome, MIM# 259775
Tags
Green Green List (high evidence)
FBN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Shprintzen-Goldberg syndrome
  • Marfan syndrome MIM#154700
Tags
Green Green List (high evidence)
FBXO11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089
Tags
Green Green List (high evidence)
FGF9
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple synostoses syndrome 3 MIM#612961
Tags
Green Green List (high evidence)
FGFR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pfeiffer syndrome, MIM# 101600
  • Jackson-Weiss syndrome 123150
Tags
Green Green List (high evidence)
FGFR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Apert syndrome, MIM# 101200
  • Crouzon syndrome, MIM# 123500
  • Pfeiffer syndrome, MIM# 101600
  • Saethre-Chotzen syndrome, MIM# 101400
Tags
Green Green List (high evidence)
FGFR3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Crouzon syndrome with acanthosis nigricans, MIM# 612247
  • Muenke syndrome, MIM# 602849
Tags
Green Green List (high evidence)
FLNA
1 review
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
  • Literature
Phenotypes
  • otopalatodigital spectrum
Tags
Green Green List (high evidence)
GLI3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Metopic craniosynostosis
  • Greig cephalopolysyndactyly syndrome MIM#175700
Tags
Green Green List (high evidence)
GNB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 42, MIM# 616973
Tags
Green Green List (high evidence)
GNPTAB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • GNPTAB-mucolipidosis MONDO:0100122
  • Mucolipidosis II alpha/beta, MIM# 252500
  • Mucolipidosis III alpha/beta, MIM# 252600
Tags
Green Green List (high evidence)
HNRNPK
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Au-Kline syndrome, MIM#616580
Tags
Green Green List (high evidence)
HUWE1
1 review
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked syndromic, Turner type MIM#309590
Tags
Green Green List (high evidence)
IDS
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900
Tags
  • treatable
Green Green List (high evidence)
IDUA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014
  • 607016
Tags
Green Green List (high evidence)
IFT122
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cranioectodermal dysplasia 1 MIM#218330
  • MONDO:0021093
Tags
Green Green List (high evidence)
IHH
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Craniosynostosis, Philadelphia type
Tags
  • 5'UTR
  • SV/CNV
Green Green List (high evidence)
IL11RA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis and dental anomalies, MIM# 614188
Tags
Green Green List (high evidence)
IRX5
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hamamy syndrome MIM#611174
Tags
Green Green List (high evidence)
KAT6A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arboleda-Tham syndrome, MIM#616268
Tags
Green Green List (high evidence)
KAT6B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • SBBYSS syndrome, MIM# 603736
Tags
Green Green List (high evidence)
KRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome
Tags
Green Green List (high evidence)
LTBP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIE MIM#619451
Tags
Green Green List (high evidence)
MAN2B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Mannosidosis, alpha-, types I and II, MIM# 248500
Tags
Green Green List (high evidence)
MAP3K20
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, MAP3K20-related
Tags
Green Green List (high evidence)
MASP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3MC syndrome, MIM#257920
Tags
Green Green List (high evidence)
MEGF8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carpenter syndrome, MIM#614976
Tags
Green Green List (high evidence)
MSX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis 2, MIM# 604757
Tags
Green Green List (high evidence)
NFIA
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis MONDO:0015469, NFIA-related
Tags
Green Green List (high evidence)
NFIX
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Malan syndrome, MIM# 614753
Tags
Green Green List (high evidence)
P4HB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cole-Carpenter syndrome 1, MIM# 112240
Tags
Green Green List (high evidence)
PHEX
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypophosphatemic rickets, X-linked dominant, MIM# 307800
Tags
Green Green List (high evidence)
POR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM# 201750
Tags
Green Green List (high evidence)
PRRX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis, MONDO:0015469, PRRX1-related
Tags
Green Green List (high evidence)
PTPN11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome
Tags
Green Green List (high evidence)
RAB23
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carpenter syndrome (MIM#201000)
Tags
Green Green List (high evidence)
RECQL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Baller-Gerold syndrome, MIM# 218600
Tags
Green Green List (high evidence)
RUNX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis
Tags
  • SV/CNV
Green Green List (high evidence)
SIX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sagittal synostosis
  • Multi-suture synostosis
Tags
Green Green List (high evidence)
SKI
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Shprintzen-Goldberg syndrome, MIM# 182212
Tags
Green Green List (high evidence)
SLC25A24
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fontaine progeroid syndrome MIM#612289
Tags
Green Green List (high evidence)
SMAD3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome 3, MIM# 613795
Tags
Green Green List (high evidence)
SMAD6
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • {Craniosynostosis 7, susceptibility to}, MIM# 617439
Tags
Green Green List (high evidence)
SMO
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Curry-Jones syndrome, somatic mosaic, MIM# 601707
Tags
  • somatic
Green Green List (high evidence)
SOX6
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ADHD
  • Craniosynostosis
  • Osteochondromas
  • Tolchin-Le Caignec syndrome, MIM#618971
Tags
Green Green List (high evidence)
SPECC1L
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypertelorism, Teebi type MIM#145420
  • Opitz GBBB syndrome, type II, MIM#145410
Tags
Green Green List (high evidence)
TCF12
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis 3, MIM# 615314
Tags
Green Green List (high evidence)
TFAP2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Syndromic craniosynostosis
Tags
Green Green List (high evidence)
TGFBR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome
Tags
Green Green List (high evidence)
TGFBR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • LOEYS-DIETZ SYNDROME
Tags
Green Green List (high evidence)
TRAF7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164
Tags
Green Green List (high evidence)
TSHR
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperthyroidism, nonautoimmune - MIM#609152
  • Hyperthyroidism, familial gestational - MIM#603373
  • Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200
Tags
Green Green List (high evidence)
TWIST1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis 1, MIM# 123100
  • Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400
Tags
  • 5'UTR
  • SV/CNV
Green Green List (high evidence)
WDR19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cranioectodermal dysplasia 4 , OMIM # 614378
Tags
Green Green List (high evidence)
WDR35
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cranioectodermal dysplasia 2, MIM# 613610
Tags
Green Green List (high evidence)
ZIC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Structural brain anomalies with impaired intellectual development and craniosynostosis, MIM# 618736
  • Craniosynostosis 6, MIM# 616602
Tags

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