Description
This panel is used for clinical indication 'R102 Osteogenesis imperfecta' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R102 Osteogenesis imperfecta'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This panel was originally developed 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

The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/196/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (04/September/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

12 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Raymond Dalgleish (University of Leicester)

    Group: GeCIP domain
    Workplace: Research lab

  • Christine Burren (University Hospitals Bristol NHS Foundation Trust)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Chris Boustred (Genomics England)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Duncan Baker (Sheffield Genetics)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

184 Entities

184 reviewed, 31 green

List Entity Reviews Mode of inheritance Details
184 Entitiess
Green Green List (high evidence)
ALPL
6 reviews
3 green 1 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Hypophosphatasia
Tags
Green Green List (high evidence)
B3GALT6
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Disproportionate Short Stature
Tags
Green Green List (high evidence)
B4GALT7
6 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070
Tags
Green Green List (high evidence)
BMP1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis imperfecta, type XIII, 614856
  • Osteogenesis Imperfecta, Recessive
Tags
Green Green List (high evidence)
CASR
5 reviews
1 green 3 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • neonatal severe hyperparathyroidism 239200
  • severe hypercalcemia, bone demineralization, multiple fractures
  • familial hypocalciuric hypercalcemia
Tags
Green Green List (high evidence)
COL1A1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Osteogenesis imperfecta, type I, 166200
  • OI type II, 166210
  • OI type III, 259420
  • OI type IV, 166220
  • Ehlers-Danlos syndrome, type I, 130000
  • Ehlers-Danlos syndrome, type VIIA, 130060
  • {Osteoporosis}, 166710
  • Caffey disease, 114000
  • Osteogenesis Imperfecta, Dominant
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Osteogenesis Imperfecta, Type IV
  • Osteogenesis Imperfecta, Type II
  • Osteogenesis Imperfecta, Type III
  • Disproportionate Short Stature
Tags
Green Green List (high evidence)
COL1A2
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ehlers-Danlos syndrome, type VIIB, 130060
  • Osteogenesis imperfecta, type IV, 166220
  • Osteogenesis imperfecta, type III, 259420
  • Osteogenesis imperfecta, type II, 166210
  • {Osteoporosis, postmenopausal}, 166710
  • Ehlers-Danlos syndrome, cardi
  • Osteogenesis Imperfecta, Dominant
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Osteogenesis Imperfecta, Type IV
  • Osteogenesis Imperfecta, Type II
  • Osteogenesis Imperfecta, Type III
Tags
Green Green List (high evidence)
CREB3L1
6 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Osteogenesis imperfecta, type XVI 616229
Tags
Green Green List (high evidence)
CRTAP
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Osteogenesis imperfecta, type VII, 610682
  • Osteogenesis Imperfecta, Recessive
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Osteogenesis Imperfecta Types VII, VIII And IX
Tags
Green Green List (high evidence)
DSPP
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dentinogenesis imperfecta, Shields type II, 125490
  • Deafness, autosomal dominant 36, with dentinogenesis, 605594
  • Dentinogenesis imperfecta, Shields type III, 125500
  • Dentin dysplasia, type II, 125420 -3
  • no fractures
Tags
Green Green List (high evidence)
FAM46A
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • osteogenesis imperfecta
Tags
  • new-gene-name
Green Green List (high evidence)
FKBP10
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis imperfecta, type XI, 610968
  • Osteogenesis Imperfecta, Recessive
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Green Green List (high evidence)
GORAB
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • congenital wrinkly skin
  • prematurely aged face
  • extremely short stature
  • osteoporosis leading to recurrent fractures
Tags
Green Green List (high evidence)
IFITM5
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis imperfecta, type V, 610967
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • c-14C>T IFITM5 testing
Tags
Green Green List (high evidence)
LRP5
6 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Green Green List (high evidence)
NBAS
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
  • bone fragility
  • immunodeficiency
  • developmental delay
Tags
Green Green List (high evidence)
NOTCH2
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Green Green List (high evidence)
P3H1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Osteogenesis imperfecta, type VIII, 610915
  • Osteogenesis Imperfecta, Recessive
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Osteogenesis Imperfecta Types VII, VIII And IX
Tags
Green Green List (high evidence)
P4HB
6 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cole-Carpenter Syndrome
  • Osteogenesis Imperfecta
  • Cole Carpenter syndrome
Tags
Green Green List (high evidence)
PLOD2
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Bruck syndrome
  • osteogenesis imperfecta
Tags
Green Green List (high evidence)
PLS3
6 reviews
3 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
  • Expert Review Green
  • NHS GMS
Phenotypes
  • X-linked osteoporosis and fractures
  • X-linked osteoporosis and fractures
  • X-linked Osteoporosis
Tags
Green Green List (high evidence)
PPIB
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Osteogenesis imperfecta, type IX, 259440
  • Osteogenesis Imperfecta, Recessive
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Osteogenesis Imperfecta Types VII, VIII And IX
Tags
Green Green List (high evidence)
SEC24D
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Cole-Carpenter syndrome
  • Osteogenesis Imperfecta, Cole Carpenter syndrome
  • SYNDROMIC OSTEOGENESIS IMPERFECTA
Tags
Green Green List (high evidence)
SERPINF1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis imperfecta, type VI, 613982
  • Osteogenesis Imperfecta, Recessive
  • osteogenesis imperfecta
Tags
Green Green List (high evidence)
SERPINH1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Preterm premature rupture of the membranes, susceptibility to}, 610504
  • Osteogenesis imperfecta, type X, 613848
  • Osteogenesis Imperfecta, Recessive
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Green Green List (high evidence)
SP7
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis imperfecta, type XII, 613849
  • Osteogenesis Imperfecta, Recessive
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Green Green List (high evidence)
SPARC
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Osteogenesis Imperfecta, Type XVII
  • Osteogenesis Imperfecta
Tags
Green Green List (high evidence)
TAPT1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteogenesis Imperfecta
Tags
Green Green List (high evidence)
TMEM38B
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis imperfecta, type XIV, 615066
  • osteogenesis imperfecta
Tags
Green Green List (high evidence)
TRPV6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Hyperparathyroidism, transient neonatal, 618188
Tags
Green Green List (high evidence)
WNT1
6 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis imperfecta, type XV, 615220
  • {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221
  • osteogenesis imperfecta
Tags
Amber Amber List (moderate evidence)
COPB2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • juvenile osteoporosis
Tags
Amber Amber List (moderate evidence)
NUDT6
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • recurrent fractures, accompanied with other skeletal manifestations including short-limb dwarfism, mild frontal bossing, bowing of legs and scoliosis.
Tags
Red Red List (low evidence)
ACAN
4 reviews
4 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondyloepiphyseal dysplasia, Kimberley type, 608361
  • Spondyloepimetaphyseal dysplasia, aggrecan type, 612813
  • Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800
  • Spondyloepimetaphyseal dysplasia, aggrecan type, 612813
  • Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800
  • Disproportionate Short Stature
Tags
Red Red List (low evidence)
ANKH
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Disproportionate Short Stature
Tags
Red Red List (low evidence)
ANO5
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Disproportionate Short Stature
Tags
Red Red List (low evidence)
ATP6V0A2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
B3GAT3
2 reviews
2 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
Tags
Red Red List (low evidence)
CLCN5
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
COL10A1
3 reviews
1 green 1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Disproportionate Short Stature
Tags
Red Red List (low evidence)
COL11A1
5 reviews
3 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Disproportionate Short Stature
  • ibrochondrogenesis 1228520
  • Stickler syndrome, type II 604841
  • Marshall Syndrome 154780
Tags
Red Red List (low evidence)
COL11A2
5 reviews
3 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Disproportionate Short Stature
  • Stickler Syndrome, Type III
  • Otospondylomegaepiphyseal dysplasia 184840
Tags
Red Red List (low evidence)
COL12A1
2 reviews
2 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693)
  • Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353)
  • Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339)
Tags
Red Red List (low evidence)
COL2A1
4 reviews
2 green 1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type I, 108300
  • Kniest dysplasia, 156550
  • Achondrogenesis, type II or hypochondrogenesis, 200610
  • SED congenita, 183900
  • SMED Strudwick type, 184250
  • Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
  • Spondyloperipheral dysplasia, 271700
  • SED, Namaqualand type
  • Osteoarthritis with mild chondrodysplasia, 604864
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia
  • Platyspondylic skeletal dysplasia, Torrance type, 151210
  • Otospondylomegaepiphyseal dysplasia, 215150
  • Avascular necrosis of the femoral head, 608805
  • Legg-Calve-Perthes disease, 150600
  • Stickler sydrome, type I, nonsyndromic ocular, 609508
  • Czech dysplasia, 609162
  • Disproportionate Short Stature
Tags
Red Red List (low evidence)
COL5A1
3 reviews
2 red
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
CREBBP
3 reviews
1 green 1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
Red Red List (low evidence)
CYP26B1
3 reviews
3 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Tags
Red Red List (low evidence)
DMP1
4 reviews
1 green 2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Acromesomelic dysplasia, Hunter-Thompson type, 201250
  • Brachydactyly, type C, 113100
  • Chondrodysplasia, Grebe type, 200700
  • Du Pan syndrome, 228900
  • Brachydactyly, type A2, 112600
  • Symphalangism, proximal, 1B, 615298
  • Multiple synostoses syndrome 2, 610017
  • {Osteoarthritis-5}, 612400
  • Brachydactyly, type A1, C, 615072
  • Hypophosphatemic rickets, AR, 241520
Tags
Red Red List (low evidence)
ENPP1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
ESR1
3 reviews
2 red
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
FGF23
4 reviews
1 green 2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
GHR
4 reviews
4 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Laron dwarfism, 262500
  • Short stature, 604271
  • {Hypercholesterolemia, familial, modification of}, 143890
  • Increased responsiveness to growth hormone
  • Proportionate Short Stature/Small for Gestational Age
Tags
Red Red List (low evidence)
GNAS
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
GNPTAB
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • I-cell disease (Mucolipidosis Type II)
Tags
Red Red List (low evidence)
GSC
2 reviews
2 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities,
Tags
Red Red List (low evidence)
LMNA
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
LRP4
2 reviews
2 red
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
LRP6
2 reviews
2 red
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
MAFB
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
MATN3
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epiphyseal dysplasia, multiple, 5, 607078
  • {Osteoarthritis susceptibility 2}, 140600
  • Spondyloepimetaphyseal dysplasia, 608728
  • Disproportionate Short Stature
Tags
Red Red List (low evidence)
MMP2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
OFD1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Oral-Facial-Digital Syndrome
Tags
Red Red List (low evidence)
PAX3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Craniofacial-Deafness-Hand Syndrome
Tags
Red Red List (low evidence)
PHEX
5 reviews
1 green 2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Red
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
PLOD1
3 reviews
2 red
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
POC1A
2 reviews
2 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
Tags
Red Red List (low evidence)
PTPRQ
2 reviews
2 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
Tags
Red Red List (low evidence)
PYCR1
3 reviews
1 green 1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
SHOX
4 reviews
4 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, idiopathic familial, 300582
  • Leri-Weill dyschondrosteosis, 127300
  • Langer mesomelic dysplasia, 249700
  • Proportionate Short Stature/Small for Gestational Age
  • Disproportionate Short Stature
Tags
Red Red List (low evidence)
SLC34A3
3 reviews
1 green 1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
SOST
3 reviews
2 red
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
TDP2
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dentinogenesis imperfecta, Shields type II, 125490
Tags
Red Red List (low evidence)
TMCO1
2 reviews
2 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome,
Tags
Red Red List (low evidence)
TNFRSF11A
3 reviews
1 green 1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
TNXB
3 reviews
3 red
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
TREM2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
TRMT10A
2 reviews
2 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly, short stature and impaired glucose metabolism, 616033
Tags
Red Red List (low evidence)
TYROBP
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Red Red List (low evidence)
VDR
3 reviews
2 red
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
ZMPSTE24
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
No list No list
ACP5
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
ATRX
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
BLM
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
BMPR1B
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
BTK
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
CANT1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
CDKN1C
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
CHST14
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
CHST3
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
COL9A1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
COL9A2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
COL9A3
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
COMP
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
CTSK
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
CUL7
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
  • Disproportionate Short Stature
Tags
No list No list
DDR2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
DHCR24
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
DHCR7
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
DYM
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
DYNC2H1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
EIF2AK3
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
  • Wolcott-Rallison syndrome
Tags
No list No list
EP300
3 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
ERCC6
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
ERCC8
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
EVC
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
EVC2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
EXT1
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
EXT2
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
FAM20C
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
FBN1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
FGD1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
FGFR1
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
FGFR2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
FGFR3
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
FLNA
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
FLNB
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
GDF5
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
GH1
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
GHRHR
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
GHSR
2 reviews
2 red
Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, 604271
Tags
No list No list
GLI2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
GLI3
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
GPC6
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
HESX1
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
HSPG2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
ICK
3 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
  • new-gene-name
No list No list
IFT122
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
IFT140
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
IFT80
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
IGF1
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
IGF1R
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
IHH
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
INSR
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
KDM6A
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
KIF22
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
KMT2D
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
KRAS
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
LHX3
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
LIFR
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
MMP13
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
MMP9
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
NBN
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
NEK1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
NIPBL
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
NKX3-2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
NPR2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
OBSL1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
PAPSS2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
PCNT
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
PITX2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
POU1F1
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
PRKAR1A
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
PROP1
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
PTH1R
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
PTPN11
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
  • Disproportionate Short Stature
Tags
No list No list
RAF1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
ROR2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
  • Disproportionate Short Stature
Tags
No list No list
RPS6KA3
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
RUNX2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
SH3PXD2B
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
SHOX2
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
SLC26A2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
SLC35D1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
SLC39A13
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
SMARCAL1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
  • Disproportionate Short Stature
Tags
No list No list
SMC1A
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
SMC3
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
SOS1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
SOX2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
SOX3
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
SOX9
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
SRCAP
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
STAT5B
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
SULF1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
TBCE
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
  • Disproportionate Short Stature
Tags
No list No list
TCTN3
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
THRB
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
TRIM37
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
No list No list
TRIP11
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
TRPS1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
TRPV4
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
WDR35
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
WNT5A
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Disproportionate Short Stature
Tags
No list No list
WRN
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags

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