Osteogenesis imperfecta (Version 4.5)

The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. 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. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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

Panel Activity

18 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
Michael Oldridge (NHS)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Duncan Baker (Sheffield Genetics)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

191 Entities

191 reviewed, 34 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 191 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)	COPB2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes juvenile osteoporosis Osteopenia Osteoporosis recurrent fractures Tags watchlist_moi
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)	FAM46A	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Osteogenesis imperfecta, type XVIII, OMIM:617952 osteogenesis imperfecta, type 18, MONDO:0044329 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)	KDELR2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Osteogenesis imperfecta, type XXI, OMIM:619131 Increased susceptibility to fractures Joint hypermobility Scoliosis Bowing of the legs and arms 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)	MESD	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Osteogenesis imperfecta, type XX, OMIM:618644 Osteogenesis imperfecta, type 20, MONDO:0032846 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Cole-Carpenter syndrome 1, OMIM:112240 Cole-Carpenter syndrome 1, MONDO:000720 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, OMIM:616507 Tags
Green Green List (high evidence)	TAPT1	5 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, OMIM:615066 Osteogenesis imperfecta type 14, MONDO:0014029 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)	UNC45A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteootohepatoenteric syndrome, OMIM:619377 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, OMIM:615220 {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221 Tags
Amber Amber List (moderate evidence)	MBTPS2	4 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Phenotypes Osteogenesis imperfecta, type XIX, OMIM:301014 osteogenesis imperfecta, type 19, MONDO:0049223 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
Amber Amber List (moderate evidence)	SGMS2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550 calvarial doughnut lesions-bone fragility syndrome, MONDO:0007470 Tags
Amber Amber List (moderate evidence)	SUCO	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Osteogenesis imperfecta, MONDO:0019019 skeletal dysplasia, HP:0002652 osteopenia Tags
Amber Amber List (moderate evidence)	WNT11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes osteoporosis, MONDO:0005298 osteoarthritis, MONDO:0005178 recurrent fractures Tags Q1_23_promote_green
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)	DSPP	6 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red 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
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	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Langer mesomelic dysplasia, OMIM:249700 (PR) Leri-Weill dyschondrosteosis, OMIM:127300 (PD) Short stature, idiopathic familial, OMIM:300582 Dorsolateral bowed, short radii Bowing and curving of radius Radioulnar shortening Tags Pseudoautosomal region 1
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 curated_removed
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 curated_removed
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 curated_removed
No list No list	BMPR1B	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
No list No list	CANT1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	CDKN1C	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	CHST14	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	CHST3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	COL9A1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	COL9A2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	COL9A3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	COMP	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	CTSK	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
No list No list	DDR2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	DHCR24	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
No list No list	DYM	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	DYNC2H1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
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 curated_removed
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 curated_removed
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 curated_removed
No list No list	EVC	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	EVC2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	EXT1	3 reviews 3 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	EXT2	3 reviews 3 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	FAM20C	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	FBN1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
No list No list	FGFR1	3 reviews 3 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	FGFR2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	FGFR3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	FLNA	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	FLNB	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	GDF5	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
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 curated_removed
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 curated_removed
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 curated_removed
No list No list	GLI3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	GPC6	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
No list No list	HSPG2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	ICK	3 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags curated_removed 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 curated_removed
No list No list	IFT140	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	IFT80	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
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 curated_removed
No list No list	IHH	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
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 curated_removed
No list No list	KIF22	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
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 curated_removed
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 curated_removed
No list No list	LIFR	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	MMP13	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	MMP9	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
No list No list	NEK1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
No list No list	NKX3-2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	NPR2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	OBSL1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	PAPSS2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	PCNT	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
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 curated_removed
No list No list	PRKAR1A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
No list No list	PTH1R	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
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 curated_removed
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 curated_removed
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 curated_removed
No list No list	RUNX2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	SH3PXD2B	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
No list No list	SLC26A2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	SLC35D1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	SLC39A13	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
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 curated_removed
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 curated_removed
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 curated_removed
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 curated_removed
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 curated_removed
No list No list	SOX9	3 reviews 3 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
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 curated_removed
No list No list	SULF1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
No list No list	TCTN3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed
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 curated_removed
No list No list	TRIP11	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	TRPS1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	TRPV4	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	WDR35	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
No list No list	WNT5A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Disproportionate Short Stature Tags curated_removed
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 curated_removed

Major version comments

2023-03-22 15:03 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 14:59 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-09-04 11:35 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.52) was signed off under NHS Genomic Medicine Service governance on (04/September/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

19.05.2016: Expert reviews were internally evaluated, along with assessment of available databases and consideration of a phenotype including fracture, to revise the gene panel. Genes that were rated red by all reviewers with an additional comment that it should be removed from the panel were demoted grey (allowing the information to be retained by the gene to be removed from the panel as these will not appear in the download).

Osteogenesis imperfecta (Version 4.5)

18 reviewers

191 Entities

191 reviewed, 34 green

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5 reviews

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