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  2. Osteogenesis Imperfecta and Osteoporosis

Osteogenesis Imperfecta and Osteoporosis (Version 1.0)

Level 2: Skeletal disorders

Relevant disorders: Increased susceptibility to fractures, HP:0002659
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes associated with osteogenesis imperfecta and osteoporosis. It was developed and is maintained by VCGS, and is a consensus panel used by RMH.

This panel has been compared against the Genomics England 'Osteogenesis Imperfecta' panel, with all differences resolved, and reciprocal feedback provided to Genomics England, 27/07/2020.
Panel Activity

12 reviewers

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Tashunka Taylor-Miller (Victorian Clinical Genetics Services)

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

44 Entities

44 reviewed, 38 green

List Entity Reviews Mode of inheritance Details
44 Entitiess
Green List (high evidence)
ALPL
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypophosphatasia, adult 146300 (AD, AR)
  • Hypophosphatasia, childhood 241510 AR
  • Hypophosphatasia, infantile 241500 AR
  • Odontohypophosphatasia 146300 AD, AR
Tags
  • treatable
Green List (high evidence)
ANO5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Gnathodiaphyseal dysplasia MIM#166260
Tags
Green List (high evidence)
B3GALT6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Tags
Green List (high evidence)
B4GALT7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Tags
Green List (high evidence)
BMP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XIII , MIM#614856
Tags
Green List (high evidence)
CASR
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperparathyroidism, neonatal, MIM# 239200
  • severe hypercalcemia, bone demineralization, multiple fractures
Tags
Green List (high evidence)
CCDC134
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XXII, MIM#619795
Tags
Green List (high evidence)
COL1A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MONDO:0030854
  • Osteogenesis imperfecta type 1 MONDO:0008146
  • Osteogenesis imperfecta type 2 MONDO:0008147
  • Osteogenesis imperfecta type 3 MONDO:0009804
  • Osteogenesis imperfecta type 4
  • MONDO:0008148
Tags
Green List (high evidence)
COL1A2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta type 1 MONDO:0008146
  • Osteogenesis imperfecta type 2 MONDO:0008147
  • Osteogenesis imperfecta type 3 MONDO:0009804
  • Osteogenesis imperfecta type 4 MONDO:0008148
Tags
Green List (high evidence)
COPB2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Tags
Green List (high evidence)
CREB3L1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVI, 616229
Tags
Green List (high evidence)
CRTAP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type VII MIM#610682
Tags
Green List (high evidence)
FAM46A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVIII, MIM# 617952
Tags
  • new gene name
Green List (high evidence)
FKBP10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • osteogenesis imperfecta type 11 MONDO:0012592
  • Bruck syndrome MONDO:0017195
Tags
Green List (high evidence)
GORAB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Geroderma osteodysplasticum, MIM# 231070
Tags
Green List (high evidence)
IFITM5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta type V, MIM#610967
Tags
Green List (high evidence)
KDELR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta 21, MIM# 619131
  • Increased susceptibility to fractures
  • joint hypermobility
  • Scoliosis
  • Bowing of the legs
  • Bowing of the arms
Tags
Green List (high evidence)
KIF5B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • osteogenesis imperfecta, MONDO:0019019
Tags
Green List (high evidence)
LRP5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • osteoporosis-pseudoglioma syndrome MONDO:0009820
Tags
Green List (high evidence)
MESD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Osteogenesis imperfecta, type XX, MIM# 618644
Tags
Green List (high evidence)
NBAS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • short stature
  • bone fragility
  • developmental delay
  • immunodeficiency
  • autism
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800
Tags
Green List (high evidence)
NOTCH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hajdu-Cheney syndrome (MIM#102500)
Tags
Green List (high evidence)
P3H1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type VIII, (MIM# 610915)
Tags
  • founder
Green List (high evidence)
P4HB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cole-Carpenter syndrome 1, MIM#112240
Tags
Green List (high evidence)
PLOD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bruck syndrome 2, MIM# 609220
Tags
Green List (high evidence)
PLS3
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
  • X-linked osteoporosis with fractures MONDO:0018315
Tags
Green List (high evidence)
PPIB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type IX, MIM# 259440
Tags
Green List (high evidence)
SEC24D
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cole-Carpenter syndrome 2, MIM# 616294
Tags
Green List (high evidence)
SERPINF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type VI, MIM# 613982
Tags
Green List (high evidence)
SERPINH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type X, MIM# 613848
Tags
Green List (high evidence)
SGMS2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550
Tags
Green List (high evidence)
SP7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta type 12, MONDO:0013460
  • Osteogenesis imperfecta, type XII, OMIM:613849
Tags
Green List (high evidence)
SPARC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVII, MIM# 616507
Tags
Green List (high evidence)
TMEM38B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XIV , MIM#615066
Tags
Green List (high evidence)
TRPV6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism, transient neonatal, MIM# 618188
Tags
Green List (high evidence)
WNT1
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XV, MIM# 615220
Tags
Green List (high evidence)
WNT11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Osteoporosis, MONDO:0005298, WNT11-related
Tags
Green List (high evidence)
XYLT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spondyloocular syndrome MIM#605822
Tags
Amber List (moderate evidence)
MBTPS2
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Osteogenesis imperfecta, type XIX, MIM# 301014
Tags
Amber List (moderate evidence)
PHLDB1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Osteogenesis imperfecta, type XXIII, MIM# 620639
Tags
Amber List (moderate evidence)
SUCO
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Osteogenesis imperfecta
Tags
Amber List (moderate evidence)
TAPT1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Tags
Amber List (moderate evidence)
UNC45A
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteootohepatoenteric syndrome, MIM# 619377
  • cholestasis
  • congenital diarrhea
  • impaired hearing
  • bone fragility
Tags
Red List (low evidence)
WNT4
1 review
1 red 		Unknown
Sources
  • Expert list
Phenotypes
  • Osteoporosis
Tags

Major version comments

  • 2024-12-08 02:07 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

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  • Green list (high evidence)
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  • Red list (low evidence)

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