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Skeletal dysplasia v0.302 PAPSS2 Zornitza Stark Marked gene: PAPSS2 as ready
Skeletal dysplasia v0.302 PAPSS2 Zornitza Stark Gene: papss2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.302 PAPSS2 Zornitza Stark Phenotypes for gene: PAPSS2 were changed from Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847 to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Skeletal dysplasia v0.301 PAPSS2 Zornitza Stark Publications for gene: PAPSS2 were set to
Skeletal dysplasia v0.300 SLC13A1 Zornitza Stark Publications for gene: SLC13A1 were set to 36175384
Skeletal dysplasia v0.299 SLC13A1 Zornitza Stark Classified gene: SLC13A1 as Amber List (moderate evidence)
Skeletal dysplasia v0.299 SLC13A1 Zornitza Stark Gene: slc13a1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.298 SLC13A1 Sangavi Sivagnanasundram reviewed gene: SLC13A1: Rating: AMBER; Mode of pathogenicity: None; Publications: doi: https://doi.org/10.1016/j.gimo.2024.101958; Phenotypes: sulfation-related bone disorder MONDO:0019688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.298 WNT7A Zornitza Stark Marked gene: WNT7A as ready
Skeletal dysplasia v0.298 WNT7A Zornitza Stark Gene: wnt7a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.298 WNT7A Zornitza Stark Phenotypes for gene: WNT7A were changed from Ulna and fibula, absence of, with severe limb deficiency 276820; Fuhrmann syndrome 228930 to Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820; Santos syndrome, MIM# 613005
Skeletal dysplasia v0.297 WNT7A Zornitza Stark Publications for gene: WNT7A were set to
Skeletal dysplasia v0.296 WNT7A Zornitza Stark reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fuhrmann syndrome, MIM# 228930, Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820, Santos syndrome, MIM# 613005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.296 CTGF Bryony Thompson Marked gene: CTGF as ready
Skeletal dysplasia v0.296 CTGF Bryony Thompson Gene: ctgf has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.296 CTGF Bryony Thompson Phenotypes for gene: CTGF were changed from Kyphomelic dysplasia to Kyphomelic dysplasia MONDO:0008881; Spondyloepimetaphyseal dysplasia MONDO:0100510
Skeletal dysplasia v0.295 CTGF Bryony Thompson Classified gene: CTGF as Amber List (moderate evidence)
Skeletal dysplasia v0.295 CTGF Bryony Thompson Gene: ctgf has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.294 CTGF Bryony Thompson reviewed gene: CTGF: Rating: RED; Mode of pathogenicity: None; Publications: 39414788, 20534727; Phenotypes: Spondyloepimetaphyseal dysplasia MONDO:0100510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.294 CTGF Sangavi Sivagnanasundram edited their review of gene: CTGF: Changed phenotypes: Kyphomelic dysplasia, skeletal dysplasia MONDO:0018230
Skeletal dysplasia v0.294 CTGF Sangavi Sivagnanasundram gene: CTGF was added
gene: CTGF was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTGF were set to 39506047
Phenotypes for gene: CTGF were set to Kyphomelic dysplasia
Review for gene: CTGF was set to AMBER
Added comment: CCN2 is the new HGNC approved name.

PMID: 39506047
Three individuals from two unrelated consanguineous families presented with short stature, facial dysmorphism and kyphomelic skeletal dysplasia.

A rare missense variant in family 1 (Cys148Tyr) and novel frameshift variant (Pro260LeufsTer7) in family 2 was identified in homozygous state.
Zebrafish model was also conducted that showed altered body curvature and impaired cartilage formation in craniofacial region resulting in either bent or missing tails.

A missense variant c.443G>A; p.(Cys148Tyr) in exon 3 and a frameshift variant, c.779_786del; p.(Pro260LeufsTer7) in exon 5.
Sources: Literature
Skeletal dysplasia v0.294 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Skeletal dysplasia v0.294 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.294 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Skeletal dysplasia v0.293 TNFRSF11A Zornitza Stark Mode of inheritance for gene: TNFRSF11A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.292 TNFRSF11A Zornitza Stark edited their review of gene: TNFRSF11A: Changed phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301, Osteolysis, familial expansile, MIM# 174810; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.292 TBXAS1 Zornitza Stark Marked gene: TBXAS1 as ready
Skeletal dysplasia v0.292 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.292 TBXAS1 Zornitza Stark Phenotypes for gene: TBXAS1 were changed from Ghosal hematodiaphyseal syndrome 231095 to Ghosal hematodiaphyseal syndrome MIM#231095
Skeletal dysplasia v0.291 TBXAS1 Zornitza Stark Publications for gene: TBXAS1 were set to
Skeletal dysplasia v0.290 TBXAS1 Zornitza Stark Mode of inheritance for gene: TBXAS1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.289 DDX41 Zornitza Stark Marked gene: DDX41 as ready
Skeletal dysplasia v0.289 DDX41 Zornitza Stark Gene: ddx41 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.289 DDX41 Chirag Patel gene: DDX41 was added
gene: DDX41 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: DDX41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX41 were set to PMID: 39453476
Phenotypes for gene: DDX41 were set to Bone dysplasia, ichthyosis, and dysmorphism
Review for gene: DDX41 was set to RED
Added comment: 1 patient with acromesomelic dysplasia (short stature, premature closure of epiphyses of hands/feet), chronic ichthyotic-like skin changes, joint pain, facial dysmorphism, dental crowding, difficulty in swallowing, hyperinsulinism, and absent breast development.. WES identified compound heterozygous DDX41 variants (p.Met155Ile and p.Glu345Lys). Parents confirmed carriers of single variant.

DDX41 (DEAD‑box helicase 41) is a member of the largest family of RNA helicases. The DEAD-box RNA helicases regulate all aspects of RNA metabolism. DDX41 acts as a sensor of viral DNA and activates the STING-TBK1-IRF3-type I IFN signaling pathway. Functional analyses of the patient-derived dermal fibroblasts revealed a reduced abundance of DDX41 and abrogated activation of the IFN genes through the STING-type I interferon pathway. Genome-wide transcriptome analyses in the patient's fibroblasts revealed significant gene dysregulation and changes in the RNA splicing events. The patient's fibroblasts also displayed upregulation of periostin mRNA expression. Using an RNA binding protein assay, they identified DDX41 as a novel regulator of periostin expression.
Sources: Literature
Skeletal dysplasia v0.288 BMP5 Zornitza Stark Marked gene: BMP5 as ready
Skeletal dysplasia v0.288 BMP5 Zornitza Stark Gene: bmp5 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.288 BMP5 Zornitza Stark Phenotypes for gene: BMP5 were changed from Skeletal dysostosis and atrioventricular septal defect to Skeletal dysplasia, MONDO:0018230, BMP5-related; Skeletal dysostosis and atrioventricular septal defect
Skeletal dysplasia v0.287 BMP5 Zornitza Stark reviewed gene: BMP5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, BMP5-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.287 BMP5 Chirag Patel changed review comment from: 1 patient with skeletal dysostosis, atrioventricular septal defect, hypermobility, laryngo-tracheo-bronchomalacia and dysmorphic features (malar hypoplasia, short palpebral fissures, short nose, low nasal bridge, anteverted nares, long philtrum, small ears with abnormally folded antihelix). Skeletal survey showed mild thoracolumbar scoliosis, four sacral segments, absent ossification of the inferior pubic rami, and patellar aplasia. Trio WGS identified compound heterozygous loss of function variants in BMP5 (c.88_89del, p.(Gly30Argfs*11) and c.1104+2del, p.(?). Abnormal splicing was proven on the suspected splice variant using maternal fibroblasts. BMP5 expression is confined to specific parts of the skeleton and cartilage in mice and is tightly regulated by different enhancers. Previous studies of chicken embryonic heart development showed BMP5 expression in the endoderm underlying the precardiac mesoderm, the myocardium of the atrioventricular canal and outflow tract regions. Other bone morphogenetic proteins are linked to several genetic skeletal disorders.
Sources: Literature; to: 1 patient with skeletal dysostosis, atrioventricular septal defect, hypermobility, laryngo-tracheo-bronchomalacia and dysmorphic features (malar hypoplasia, short palpebral fissures, short nose, low nasal bridge, anteverted nares, long philtrum, small ears with abnormally folded antihelix). Skeletal survey showed mild thoracolumbar scoliosis, four sacral segments, absent ossification of the inferior pubic rami, and patellar aplasia. Trio WGS identified compound heterozygous loss of function variants in BMP5 (c.88_89del, p.(Gly30Argfs*11) and c.1104+2del, p.(?). Abnormal splicing was proven on the suspected splice variant using maternal fibroblasts. BMP5 expression is confined to specific parts of the skeleton and cartilage in mice and is tightly regulated by different enhancers. Previous studies of chicken embryonic heart development showed BMP5 expression in the endoderm underlying the precardiac mesoderm, the myocardium of the atrioventricular canal and outflow tract regions. Other bone morphogenetic proteins are linked to several genetic skeletal disorders.
Sources: Literature
Skeletal dysplasia v0.287 BMP5 Chirag Patel gene: BMP5 was added
gene: BMP5 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: BMP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMP5 were set to PMID: 39239663
Phenotypes for gene: BMP5 were set to Skeletal dysostosis and atrioventricular septal defect
Review for gene: BMP5 was set to RED
Added comment: 1 patient with skeletal dysostosis, atrioventricular septal defect, hypermobility, laryngo-tracheo-bronchomalacia and dysmorphic features (malar hypoplasia, short palpebral fissures, short nose, low nasal bridge, anteverted nares, long philtrum, small ears with abnormally folded antihelix). Skeletal survey showed mild thoracolumbar scoliosis, four sacral segments, absent ossification of the inferior pubic rami, and patellar aplasia. Trio WGS identified compound heterozygous loss of function variants in BMP5 (c.88_89del, p.(Gly30Argfs*11) and c.1104+2del, p.(?). Abnormal splicing was proven on the suspected splice variant using maternal fibroblasts. BMP5 expression is confined to specific parts of the skeleton and cartilage in mice and is tightly regulated by different enhancers. Previous studies of chicken embryonic heart development showed BMP5 expression in the endoderm underlying the precardiac mesoderm, the myocardium of the atrioventricular canal and outflow tract regions. Other bone morphogenetic proteins are linked to several genetic skeletal disorders.
Sources: Literature
Skeletal dysplasia v0.286 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from intellectual disability, X-linked 99 MONDO:0010487 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Skeletal dysplasia v0.285 DCC Zornitza Stark Marked gene: DCC as ready
Skeletal dysplasia v0.285 DCC Zornitza Stark Gene: dcc has been classified as Green List (High Evidence).
Skeletal dysplasia v0.285 DCC Zornitza Stark Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2, MIM# 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, MIM# 617542
Skeletal dysplasia v0.284 DCC Zornitza Stark Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542; Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, MIM# 617542
Skeletal dysplasia v0.283 DCC Zornitza Stark Publications for gene: DCC were set to 28250456
Skeletal dysplasia v0.282 DCC Zornitza Stark Classified gene: DCC as Green List (high evidence)
Skeletal dysplasia v0.282 DCC Zornitza Stark Gene: dcc has been classified as Green List (High Evidence).
Skeletal dysplasia v0.281 DCC Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33141514; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.281 FUZ Zornitza Stark Marked gene: FUZ as ready
Skeletal dysplasia v0.281 FUZ Zornitza Stark Gene: fuz has been classified as Green List (High Evidence).
Skeletal dysplasia v0.281 FUZ Zornitza Stark Phenotypes for gene: FUZ were changed from Ciliopathy_MONDO_0005308; skeletal ciliopathy to Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy
Skeletal dysplasia v0.280 PISD Zornitza Stark Phenotypes for gene: PISD were changed from Liberfarb syndrome MIM# 618889; Spondylometaphyseal dysplasia with large epiphyses to Liberfarb syndrome MIM# 618889; Spondylometaphyseal dysplasia with large epiphyses, MONDO:0100510
Skeletal dysplasia v0.279 PISD Zornitza Stark Phenotypes for gene: PISD were changed from Spondylometaphyseal dysplasia with large epiphyses to Liberfarb syndrome MIM# 618889; Spondylometaphyseal dysplasia with large epiphyses
Skeletal dysplasia v0.278 PISD Zornitza Stark Classified gene: PISD as Green List (high evidence)
Skeletal dysplasia v0.278 PISD Zornitza Stark Gene: pisd has been classified as Green List (High Evidence).
Skeletal dysplasia v0.277 PISD Sangavi Sivagnanasundram reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 38801004; Phenotypes: Liberfarb syndrome MONDO:0030045; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.277 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Skeletal dysplasia v0.277 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Skeletal dysplasia v0.276 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Skeletal dysplasia v0.276 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Skeletal dysplasia v0.276 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Skeletal dysplasia v0.276 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Skeletal dysplasia v0.276 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Skeletal dysplasia v0.276 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Skeletal dysplasia v0.275 FUZ Chirag Patel gene: FUZ was added
gene: FUZ was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684
Phenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy
Review for gene: FUZ was set to GREEN
gene: FUZ was marked as current diagnostic
Added comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.

PMID: 38702430
1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.

1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].

PMID: 29068549
1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.
1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.

PMID: 34719684
Monozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis.
Sources: Literature
Skeletal dysplasia v0.274 UFSP2 Zornitza Stark Publications for gene: UFSP2 were set to 28892125; 26428751; 32755715
Skeletal dysplasia v0.273 UFSP2 Zornitza Stark Classified gene: UFSP2 as Green List (high evidence)
Skeletal dysplasia v0.273 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.272 UFSP2 Chern Lim reviewed gene: UFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37214758; Phenotypes: Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v0.272 HSPG2 Ain Roesley Phenotypes for gene: HSPG2 were changed from Dyssegmental dysplasia, Silverman-Handmaker type 224410; Schwartz-Jampel syndrome, type 1 255800 to Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139); Dyssegmental dysplasia, Silverman-Handmaker type 224410; Schwartz-Jampel syndrome, type 1 255800
Skeletal dysplasia v0.272 HSPG2 Ain Roesley Publications for gene: HSPG2 were set to
Skeletal dysplasia v0.271 HSPG2 Dean Phelan reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38424183; Phenotypes: Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.271 RAB34 Zornitza Stark Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718
Skeletal dysplasia v0.270 LFNG Elena Savva Marked gene: LFNG as ready
Skeletal dysplasia v0.270 LFNG Elena Savva Gene: lfng has been classified as Green List (High Evidence).
Skeletal dysplasia v0.270 LFNG Elena Savva Publications for gene: LFNG were set to 30196550; 16385447
Skeletal dysplasia v0.270 LFNG Elena Savva Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive 609813 to Spondylocostal dysostosis 3, autosomal recessive MIM#609813
Skeletal dysplasia v0.269 LFNG Elena Savva Classified gene: LFNG as Green List (high evidence)
Skeletal dysplasia v0.269 LFNG Elena Savva Gene: lfng has been classified as Green List (High Evidence).
Skeletal dysplasia v0.268 RAB34 Elena Savva Marked gene: RAB34 as ready
Skeletal dysplasia v0.268 RAB34 Elena Savva Gene: rab34 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.268 RAB34 Elena Savva Classified gene: RAB34 as Green List (high evidence)
Skeletal dysplasia v0.268 RAB34 Elena Savva Gene: rab34 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.267 RAB34 Elena Savva gene: RAB34 was added
gene: RAB34 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to 37619988; 37384395
Phenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Review for gene: RAB34 was set to GREEN
Added comment: PMID: 37619988
- Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly.
- Rab34-/- mice displayed a ciliopathy phenotype with cleft palate and polydactyly.

PMID: 37384395
- Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands.
Sources: Literature
Skeletal dysplasia v0.266 KIAA0586 Elena Savva Classified gene: KIAA0586 as Green List (high evidence)
Skeletal dysplasia v0.266 KIAA0586 Elena Savva Gene: kiaa0586 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.266 KIAA0586 Elena Savva Classified gene: KIAA0586 as Green List (high evidence)
Skeletal dysplasia v0.266 KIAA0586 Elena Savva Gene: kiaa0586 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.265 KIAA0586 Elena Savva Marked gene: KIAA0586 as ready
Skeletal dysplasia v0.265 KIAA0586 Elena Savva Gene: kiaa0586 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.265 KIAA0586 Elena Savva gene: KIAA0586 was added
gene: KIAA0586 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0586 were set to PMID: 36538006; 26096313; 26166481
Phenotypes for gene: KIAA0586 were set to Joubert syndrome 23 MIM#616490; Short-rib thoracic dysplasia 14 with polydactyly MIM#616546
Review for gene: KIAA0586 was set to GREEN
Added comment: PMID: 36538006 - fetus with post-axial polydactyly, short limbs and persistent left superior vena cava (PLSVC) with a dilated coronary sinus. Chet variants c.3940+1G>A
and c.3303G>A (synonymous) were identified. Functional studies support an impact for both variants.

PMID: 26096313 - 9 unrelated families with Joubert syndrome. MRI shows the molar tooth sign in 3/3 scanned patients. Patients tended to have biallelic PTCs, though missense also reported. p.Arg143Lysfs*4 appears to be a recurring mutation, seen in patients either as a homozygote or in chet with another unique mutation in 7/9 families. Interestingly these 7 families were of different ethnicity

PMID: 26166481 - Four unrelated families reported with a severe neurological/skeletal phenotype. However, note same variant identified in three of the families, indicative of founder effect. Gene is also associated with Joubert syndrome.
Sources: Literature
Skeletal dysplasia v0.264 HYLS1 Elena Savva Marked gene: HYLS1 as ready
Skeletal dysplasia v0.264 HYLS1 Elena Savva Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.264 HYLS1 Elena Savva Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome MIM#236680
Skeletal dysplasia v0.264 HYLS1 Elena Savva Publications for gene: HYLS1 were set to
Skeletal dysplasia v0.263 HYLS1 Elena Savva Classified gene: HYLS1 as Amber List (moderate evidence)
Skeletal dysplasia v0.263 HYLS1 Elena Savva Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.262 NEPRO Zornitza Stark Marked gene: NEPRO as ready
Skeletal dysplasia v0.262 NEPRO Zornitza Stark Gene: nepro has been classified as Green List (High Evidence).
Skeletal dysplasia v0.262 NEPRO Zornitza Stark Publications for gene: NEPRO were set to 26633546; 29620724; 31250547
Skeletal dysplasia v0.261 NEPRO Zornitza Stark Classified gene: NEPRO as Green List (high evidence)
Skeletal dysplasia v0.261 NEPRO Zornitza Stark Gene: nepro has been classified as Green List (High Evidence).
Skeletal dysplasia v0.260 NEPRO Achchuthan Shanmugasundram reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: None; Publications: 37294112; Phenotypes: Anauxetic dysplasia 3, OMIM:618853; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.260 SOX8 Zornitza Stark Marked gene: SOX8 as ready
Skeletal dysplasia v0.260 SOX8 Zornitza Stark Gene: sox8 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.260 SOX8 Zornitza Stark Classified gene: SOX8 as Red List (low evidence)
Skeletal dysplasia v0.260 SOX8 Zornitza Stark Gene: sox8 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.259 SOX8 Paul De Fazio gene: SOX8 was added
gene: SOX8 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: SOX8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SOX8 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200088
Phenotypes for gene: SOX8 were set to Neurodevelopmental disorder (MONDO:0700092), SOX8-related
Review for gene: SOX8 was set to RED
gene: SOX8 was marked as current diagnostic
Added comment: Proband presented to genetics clinic at 27 years of age with BMI -3.4SD, height -2.7SD, head circumference -1.8SD. She had mild intellectual delay and clinical features of a congenital, nonprogressive myopathy with moderate proximal and distal weakness. X-rays showed skeletal dysplasia, including cervical thoracic scoliosis and lumbar scoliosis. She was reported as having had weakness at birth with poor suck, micrognathia, hypotonia, and talipes. She was documented to have significant motor delay as a child. MRI of the brain demonstrated large posterior fossa CSF spaces.

Biallelic SOX8 variants biallelic (NM_014587.3:c.422+5G>C; c.583dup p.(His195ProfsTer11)) were identified by WGS. The +5 variant was shown to affect splicing, while the frameshift variant resulted in production of low-level truncated protein (not NMD predicted). Functional studies on patient fibroblasts showed misregulation of downstream SOX8 targets.
Sources: Literature
Skeletal dysplasia v0.259 ERI1 Zornitza Stark Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related to Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663
Skeletal dysplasia v0.258 ERI1 Zornitza Stark reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.258 MGP Zornitza Stark Marked gene: MGP as ready
Skeletal dysplasia v0.258 MGP Zornitza Stark Gene: mgp has been classified as Green List (High Evidence).
Skeletal dysplasia v0.258 MGP Zornitza Stark Phenotypes for gene: MGP were changed from Keutel syndrome 245150; Keutel syndrome 245150 to Keutel syndrome 245150; skeletal dysplasia MONDO:0018230, MGP-related
Skeletal dysplasia v0.257 MGP Zornitza Stark Mode of inheritance for gene: MGP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.256 MGP Andrew Fennell reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37923733; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.256 AXIN1 Zornitza Stark Phenotypes for gene: AXIN1 were changed from Syndromic disease, (MONDO:0002254), AXIN1-related to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558
Skeletal dysplasia v0.255 AXIN1 Zornitza Stark reviewed gene: AXIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.255 CSGALNACT1 Zornitza Stark Marked gene: CSGALNACT1 as ready
Skeletal dysplasia v0.255 CSGALNACT1 Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.255 CSGALNACT1 Zornitza Stark Classified gene: CSGALNACT1 as Green List (high evidence)
Skeletal dysplasia v0.255 CSGALNACT1 Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.254 CSGALNACT1 Zornitza Stark gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSGALNACT1 were set to 31705726; 31325655
Phenotypes for gene: CSGALNACT1 were set to Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870
Review for gene: CSGALNACT1 was set to GREEN
Added comment: Four families reported.
Sources: Expert Review
Skeletal dysplasia v0.253 MAB21L2 Zornitza Stark Marked gene: MAB21L2 as ready
Skeletal dysplasia v0.253 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.253 MAB21L2 Zornitza Stark Classified gene: MAB21L2 as Green List (high evidence)
Skeletal dysplasia v0.253 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.252 MAB21L2 Zornitza Stark gene: MAB21L2 was added
gene: MAB21L2 was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: MAB21L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAB21L2 were set to 24906020; 25719200; 31037784; 30375740; 30073347; 26116559
Phenotypes for gene: MAB21L2 were set to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
Review for gene: MAB21L2 was set to GREEN
Added comment: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID.

One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.

Three different animal models support gene-disease association.
Sources: Expert Review
Skeletal dysplasia v0.251 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Skeletal dysplasia v0.251 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.250 AXIN1 Elena Savva Marked gene: AXIN1 as ready
Skeletal dysplasia v0.250 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.250 AXIN1 Elena Savva Marked gene: AXIN1 as ready
Skeletal dysplasia v0.250 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.250 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Skeletal dysplasia v0.250 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.249 AXIN1 Elena Savva gene: AXIN1 was added
gene: AXIN1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AXIN1 were set to PMID: 37582359
Phenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related
Review for gene: AXIN1 was set to GREEN
Added comment: PMID: 37582359
- four families (7 individuals) with three homozygous truncating variants.
- all variant shown to result in reduced protein, though 1/3 would be NMD predicted
- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis
Sources: Literature
Skeletal dysplasia v0.248 RAB3GAP2 Ain Roesley Classified gene: RAB3GAP2 as Green List (high evidence)
Skeletal dysplasia v0.248 RAB3GAP2 Ain Roesley Gene: rab3gap2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.248 RAB3GAP2 Ain Roesley Marked gene: RAB3GAP2 as ready
Skeletal dysplasia v0.248 RAB3GAP2 Ain Roesley Gene: rab3gap2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.248 RAB3GAP2 Ain Roesley Mode of inheritance for gene: RAB3GAP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.248 RAB3GAP2 Ain Roesley Publications for gene: RAB3GAP2 were set to 23420520; 20967465
Skeletal dysplasia v0.247 RAB3GAP2 Ain Roesley Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, MIM# 614225 to Martsolf syndrome 1 MIM#212720
Skeletal dysplasia v0.246 RAB3GAP2 Ain Roesley Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome to Warburg micro syndrome 2, MIM# 614225
Skeletal dysplasia v0.246 RAB3GAP2 Ain Roesley Publications for gene: RAB3GAP2 were set to
Skeletal dysplasia v0.246 RAB3GAP2 Ain Roesley Mode of inheritance for gene: RAB3GAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.246 RAB3GAP2 Ain Roesley Classified gene: RAB3GAP2 as Green List (high evidence)
Skeletal dysplasia v0.246 RAB3GAP2 Ain Roesley Gene: rab3gap2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.245 PHF6 Ain Roesley Marked gene: PHF6 as ready
Skeletal dysplasia v0.245 PHF6 Ain Roesley Gene: phf6 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.245 PHF6 Ain Roesley Phenotypes for gene: PHF6 were changed from Coffin-Siris syndrome to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Skeletal dysplasia v0.245 PHF6 Ain Roesley Publications for gene: PHF6 were set to
Skeletal dysplasia v0.244 PHF6 Ain Roesley Mode of inheritance for gene: PHF6 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v0.244 PHF6 Ain Roesley Classified gene: PHF6 as Green List (high evidence)
Skeletal dysplasia v0.244 PHF6 Ain Roesley Gene: phf6 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.243 DDRGK1 Ain Roesley Marked gene: DDRGK1 as ready
Skeletal dysplasia v0.243 DDRGK1 Ain Roesley Added comment: Comment when marking as ready: RNA and protein studies performed for the splice variant. These two variants likely represents founder variants
Skeletal dysplasia v0.243 DDRGK1 Ain Roesley Gene: ddrgk1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.243 DDRGK1 Ain Roesley Tag founder tag was added to gene: DDRGK1.
Skeletal dysplasia v0.243 DDRGK1 Ain Roesley Classified gene: DDRGK1 as Green List (high evidence)
Skeletal dysplasia v0.243 DDRGK1 Ain Roesley Gene: ddrgk1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.242 Zornitza Stark removed gene:PLK4 from the panel
Skeletal dysplasia v0.241 PLK4 Zornitza Stark changed review comment from: At least 3 unrelated families reported with autosomal recessive developmental disorder characterised by delayed psychomotor development, visual impairment, and microcephaly.; to: At least 3 unrelated families reported with autosomal recessive developmental disorder characterised by delayed psychomotor development, visual impairment, and microcephaly.

Short stature but no specific skeletal abnormalities.
Skeletal dysplasia v0.241 PLK4 Zornitza Stark edited their review of gene: PLK4: Changed rating: RED
Skeletal dysplasia v0.241 PHF6 Zornitza Stark changed review comment from: Clinical features are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected.

More than 20 families reported.; to: Clinical features are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected.

More than 20 families reported.

Abnormal skeletal features including thickened calvarium and abnormal vertebrae reported.
Skeletal dysplasia v0.241 Zornitza Stark removed gene:DRG1 from the panel
Skeletal dysplasia v0.240 IFT74 Krithika Murali Classified gene: IFT74 as Green List (high evidence)
Skeletal dysplasia v0.240 IFT74 Krithika Murali Gene: ift74 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.239 IFT74 Krithika Murali Classified gene: IFT74 as Green List (high evidence)
Skeletal dysplasia v0.239 IFT74 Krithika Murali Gene: ift74 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.238 IFT74 Krithika Murali Marked gene: IFT74 as ready
Skeletal dysplasia v0.238 IFT74 Krithika Murali Gene: ift74 has been removed from the panel.
Skeletal dysplasia v0.238 IFT74 Naomi Baker gene: IFT74 was added
gene: IFT74 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to PMID:37315079
Phenotypes for gene: IFT74 were set to Jeune syndrome (MONDO:0018770), IFT74-related
Review for gene: IFT74 was set to GREEN
Added comment: Five individuals from four families reported. A homozygous exon 2 deletion was identified in two families, and splice variants were identified in the other two families (with minigene experiments demonstrating an effect on splicing of the non-canonical/deep intronic splice variants).

Authors also characterised three mouse Ift74 alleles, with phenotypes ranging from a severe mid gestational lethal phenotype in the Ift74Tm1d out of frame exon 3 deletion allele, a post-natal lethal phenotype in the Ift74Tm1a exon 2 skip allele, to no detectable phenotype in Ift74Tm1b in frame exon 3 deletion allele.
Sources: Literature
Skeletal dysplasia v0.238 DRG1 Krithika Murali Classified gene: DRG1 as Green List (high evidence)
Skeletal dysplasia v0.238 DRG1 Krithika Murali Gene: drg1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.237 DRG1 Krithika Murali Marked gene: DRG1 as ready
Skeletal dysplasia v0.237 DRG1 Krithika Murali Gene: drg1 has been removed from the panel.
Skeletal dysplasia v0.237 DRG1 Dean Phelan gene: DRG1 was added
gene: DRG1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DRG1 were set to PMID: 37179472
Phenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related
Review for gene: DRG1 was set to GREEN
Added comment: PMID: 37179472
- Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function.
Sources: Literature
Skeletal dysplasia v0.237 ERI1 Elena Savva Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related, Intellectual disability (MONDO#0001071), ERI1-related to Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related
Skeletal dysplasia v0.236 ERI1 Elena Savva Classified gene: ERI1 as Green List (high evidence)
Skeletal dysplasia v0.236 ERI1 Elena Savva Gene: eri1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.235 ERI1 Elena Savva Classified gene: ERI1 as Green List (high evidence)
Skeletal dysplasia v0.235 ERI1 Elena Savva Gene: eri1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.234 ERI1 Elena Savva Marked gene: ERI1 as ready
Skeletal dysplasia v0.234 ERI1 Elena Savva Gene: eri1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.234 ERI1 Elena Savva gene: ERI1 was added
gene: ERI1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERI1 were set to 37352860
Phenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related, Intellectual disability (MONDO#0001071), ERI1-related
Review for gene: ERI1 was set to GREEN
Added comment: PMID: 37352860 - 8 individuals from 7 unrelated families
- Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly
- Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly
- Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive

- Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells
- K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense

More severe phenotype hypothesised due to "exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy
with ERI1, staying bound to those RNA molecules"
Sources: Literature
Skeletal dysplasia v0.233 TAPT1 Elena Savva Publications for gene: TAPT1 were set to 26365339
Skeletal dysplasia v0.232 TAPT1 Paul De Fazio reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36697720, 36652330; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v0.232 PKDCC Zornitza Stark Phenotypes for gene: PKDCC were changed from Rhizomelia; dysmorphism to Rhizomelic limb shortening with dysmorphic features, MIM# 618821
Skeletal dysplasia v0.231 PKDCC Zornitza Stark Publications for gene: PKDCC were set to 30478137; 19097194
Skeletal dysplasia v0.230 PKDCC Zornitza Stark Classified gene: PKDCC as Green List (high evidence)
Skeletal dysplasia v0.230 PKDCC Zornitza Stark Gene: pkdcc has been classified as Green List (High Evidence).
Skeletal dysplasia v0.229 PKDCC Zornitza Stark edited their review of gene: PKDCC: Changed rating: GREEN; Changed publications: 30478137, 19097194, 36896672; Changed phenotypes: Rhizomelic limb shortening with dysmorphic features, MIM# 618821
Skeletal dysplasia v0.229 DDRGK1 Achchuthan Shanmugasundram gene: DDRGK1 was added
gene: DDRGK1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: DDRGK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDRGK1 were set to 28263186; 35377455; 35670300; 36243336
Phenotypes for gene: DDRGK1 were set to Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557
Review for gene: DDRGK1 was set to GREEN
Added comment: Comment on gene classification: This gene should be rated GREEN as it has been associated with Spondyloepimetaphyseal dysplasia, Shohat type from seven unrelated cases from multiple ethnicities and supported by functional studies.

PMID:28263186 reported six individuals from three different families of Iraqi Jewish descent (three patients from family 1 and one individual each from families 2-4) identified with homozygous c.408+1G>A donor splice site loss-of-function mutation in DDRGK1 and presented with Shohat-type spondyloepimetaphyseal dysplasia (SEMD). It is a skeletal dysplasia that affects cartilage development.

PMID: 35670300 reported two unrelated cases of Moroccan descent identified with homozygous missense variant c.406G>A and presented with SEMD. PMID:36243336 reported an Omani female patient identified with the same homozygous variant as the Iraqi cases and was reported with SEMD.

In addition, studies on both zebrafish and mouse models confirms the physiological role of DDRGK1 in the development and maintenance of the growth plate cartilage and deficiency of DDRGK1 recapitulate the clinical phenotype of short stature and joint abnormalities observed in patients with Shohat type SEMD (PMID:28263186; PMID:35377455).

This gene has been associated with relevant phenotype in OMIM (MIM #602557), but not in Gene2Phenotype.
Sources: Literature
Skeletal dysplasia v0.229 Zornitza Stark HPO terms changed from to Skeletal dysplasia, HP:0002652
List of related panels changed from to Skeletal dysplasia; HP:0002652
Skeletal dysplasia v0.228 CBFB Ain Roesley Marked gene: CBFB as ready
Skeletal dysplasia v0.228 CBFB Ain Roesley Gene: cbfb has been classified as Green List (High Evidence).
Skeletal dysplasia v0.228 CBFB Ain Roesley Classified gene: CBFB as Green List (high evidence)
Skeletal dysplasia v0.228 CBFB Ain Roesley Gene: cbfb has been classified as Green List (High Evidence).
Skeletal dysplasia v0.227 CBFB Ain Roesley gene: CBFB was added
gene: CBFB was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBFB were set to 36241386
Phenotypes for gene: CBFB were set to cleidocranial dysplasia (MONDO#0007340), CBFB-related
Penetrance for gene: CBFB were set to Complete
Review for gene: CBFB was set to GREEN
gene: CBFB was marked as current diagnostic
Added comment: 5 families with 8 individuals, including 2 de novos and 1 intragenic exon 4 deletion

In 1 family, the mother did not report skeletal concerns but had dental abnormalities during childhood
Sources: Literature
Skeletal dysplasia v0.226 GNPNAT1 Krithika Murali reviewed gene: GNPNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36097642, 35427807; Phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.226 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Skeletal dysplasia v0.226 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.226 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600 to Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600
Skeletal dysplasia v0.225 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.224 CLCN7 Zornitza Stark Publications for gene: CLCN7 were set to
Skeletal dysplasia v0.223 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.222 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
Skeletal dysplasia v0.222 LAMA5 Zornitza Stark Phenotypes for gene: LAMA5 were changed from Bent bone dysplasia to Bent bone dysplasia syndrome 2, MIM# 620076
Skeletal dysplasia v0.221 LAMA5 Zornitza Stark reviewed gene: LAMA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bent bone dysplasia syndrome 2, MIM# 620076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.221 GALNS Zornitza Stark Marked gene: GALNS as ready
Skeletal dysplasia v0.221 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Skeletal dysplasia v0.221 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA 253000 to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659
Skeletal dysplasia v0.220 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Skeletal dysplasia v0.220 FAM20B Zornitza Stark Marked gene: FAM20B as ready
Skeletal dysplasia v0.220 FAM20B Zornitza Stark Gene: fam20b has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.220 FAM20B Zornitza Stark Classified gene: FAM20B as Amber List (moderate evidence)
Skeletal dysplasia v0.220 FAM20B Zornitza Stark Gene: fam20b has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.219 FAM20B Zornitza Stark gene: FAM20B was added
gene: FAM20B was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: FAM20B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20B were set to 30847897; 30105814; 22732358; 27405802
Phenotypes for gene: FAM20B were set to Desbuquois dysplasia MONDO:0015426
Review for gene: FAM20B was set to AMBER
Added comment: Two siblings from a single family with neonatal short limb dysplasia resembling Desbuquois dysplasia. One of the siblings underwent genetic testing and compound heterozygous variants were identified in FAM20B ((NM_014864: c.174_178delTACCT p.T59Afs*19/c.1038delG p.N347Mfs*4). Multiple mouse models reported with skeletal abnormalities.
Sources: Literature
Skeletal dysplasia v0.218 EXOC6B Bryony Thompson Marked gene: EXOC6B as ready
Skeletal dysplasia v0.218 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.218 EXOC6B Bryony Thompson Classified gene: EXOC6B as Green List (high evidence)
Skeletal dysplasia v0.218 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.217 EXOC6B Bryony Thompson gene: EXOC6B was added
gene: EXOC6B was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC6B were set to 26669664; 30284759; 36150098
Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675
Review for gene: EXOC6B was set to GREEN
Added comment: 6 affected individuals from 4 families, and supporting assays in patient cells
PMID: 26669664 - 2 brothers with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones from a consanguineous family, with a homozygous nonsense variant [c.906T>A/p.(Tyr302*)]
PMID: 30284759 - 2 sisters with dislocations of the hips and knees, long slender fingers with distal tapering, significant motor disability but normal (older sister) or low-normal intelligence (younger sister), with a homozygous in-frame deletion of exons 9-20
PMID: 36150098 - 2 unrelated probands from consanguineous families, one with a homozygous frameshift exon 20 deletion and one with a homozygous nonsense variant (c.401T>G p.Leu134Ter). Function assessment of patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis
Sources: Literature
Skeletal dysplasia v0.216 DACT1 Zornitza Stark Marked gene: DACT1 as ready
Skeletal dysplasia v0.216 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.216 TAB2 Seb Lunke Classified gene: TAB2 as Green List (high evidence)
Skeletal dysplasia v0.216 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.215 TAB2 Seb Lunke Classified gene: TAB2 as Green List (high evidence)
Skeletal dysplasia v0.215 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.214 TAB2 Seb Lunke Classified gene: TAB2 as Green List (high evidence)
Skeletal dysplasia v0.214 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.213 TAB2 Seb Lunke Marked gene: TAB2 as ready
Skeletal dysplasia v0.213 TAB2 Seb Lunke Gene: tab2 has been removed from the panel.
Skeletal dysplasia v0.213 TAB2 Belinda Chong gene: TAB2 was added
gene: TAB2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAB2 were set to 34456334; 36000780
Phenotypes for gene: TAB2 were set to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Review for gene: TAB2 was set to GREEN
gene: TAB2 was marked as current diagnostic
Added comment: PMID 36000780 - 3-generation family with caudal appendage and other sacral anomalies, as well as skeletal abnormalities including hypoplasia of iliac wings and scapulae, fusion of the carpal bones, and stenosis of the spinal canal.
Sources: Literature
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Marked gene: SLC13A1 as ready
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Gene: slc13a1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Classified gene: SLC13A1 as Red List (low evidence)
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Added comment: Comment on list classification: Lots of hets and 1 hom, authors claim "predisposing to degenerative bone and joint disease"
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Gene: slc13a1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.212 SLC13A1 Lucy Spencer gene: SLC13A1 was added
gene: SLC13A1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A1 were set to 36175384
Phenotypes for gene: SLC13A1 were set to sulfation-related bone disorder MONDO:0019688, SLC13A1-related
Review for gene: SLC13A1 was set to RED
Added comment: PMID: 36175384- 1 patient with a homozygous nonsense variant in SLC13A1. Patient has enlargements of the joints, and spondylo-epi-metaphyseal radiological abnormalities in early childhood, which improved with age. Also autistic features and hyposulfatemia and hypersulfaturia, and reduced serum cholesterol sulfate. However the variant in this individual (Arg12Ter) has 569 hets and 1 hom in gnomad.

Also this patient was homozygous for CFTR Ala455Gly which is a known pathogenic variant associated with a less severe CF phenotype.
Sources: Literature
Skeletal dysplasia v0.212 ARSB Zornitza Stark Marked gene: ARSB as ready
Skeletal dysplasia v0.212 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Skeletal dysplasia v0.212 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661
Skeletal dysplasia v0.211 ARSB Zornitza Stark Publications for gene: ARSB were set to
Skeletal dysplasia v0.210 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Skeletal dysplasia v0.210 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Skeletal dysplasia v0.210 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.210 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Skeletal dysplasia v0.209 ACVR1 Zornitza Stark Tag clinical trial tag was added to gene: ACVR1.
Skeletal dysplasia v0.209 ACVR1 Zornitza Stark changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Clinical trial with palovarotene.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.
Skeletal dysplasia v0.209 ALPL Zornitza Stark reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31413732, 30811537; Phenotypes: Hypophosphatasia, adult 146300 (AD, AR), Hypophosphatasia, childhood 241510 AR, Hypophosphatasia, infantile 241500 AR, Odontohypophosphatasia 146300 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.209 ALPL Zornitza Stark Marked gene: ALPL as ready
Skeletal dysplasia v0.209 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Skeletal dysplasia v0.209 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from hypophosphatasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias to Hypophosphatasia, adult 146300 (AD, AR); Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR
Skeletal dysplasia v0.208 ALPL Zornitza Stark Publications for gene: ALPL were set to
Skeletal dysplasia v0.207 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Skeletal dysplasia v0.207 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Skeletal dysplasia v0.207 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.207 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If 609180 to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Skeletal dysplasia v0.206 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Skeletal dysplasia v0.205 MPDU1 Zornitza Stark changed review comment from: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK.; to: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK.

Listed in the skeletal nosology paper as a condition resembling storage diseases, occasional reports of severe short stature.
Skeletal dysplasia v0.205 SMARCB1 Bryony Thompson Marked gene: SMARCB1 as ready
Skeletal dysplasia v0.205 SMARCB1 Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.205 SMARCB1 Bryony Thompson Phenotypes for gene: SMARCB1 were changed from Coffin Siris syndrome to Coffin-Siris syndrome 3, MIM# 614608
Skeletal dysplasia v0.204 SMARCB1 Bryony Thompson Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.203 SMARCB1 Bryony Thompson Publications for gene: SMARCB1 were set to
Skeletal dysplasia v0.202 SMARCB1 Bryony Thompson Classified gene: SMARCB1 as Green List (high evidence)
Skeletal dysplasia v0.202 SMARCB1 Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.201 SOX11 Bryony Thompson Marked gene: SOX11 as ready
Skeletal dysplasia v0.201 SOX11 Bryony Thompson Gene: sox11 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.201 SOX11 Bryony Thompson Mode of inheritance for gene: SOX11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.200 SOX11 Bryony Thompson Phenotypes for gene: SOX11 were changed from Coffin-Siris syndrome to Coffin-Siris syndrome MONDO:0015452
Skeletal dysplasia v0.199 SOX11 Bryony Thompson Classified gene: SOX11 as Green List (high evidence)
Skeletal dysplasia v0.199 SOX11 Bryony Thompson Gene: sox11 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.198 SOX11 Bryony Thompson reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 26543203; Phenotypes: Coffin-Siris syndrome MONDO:0015452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.198 SOX11 Bryony Thompson Publications for gene: SOX11 were set to
Skeletal dysplasia v0.197 USP9X Bryony Thompson Marked gene: USP9X as ready
Skeletal dysplasia v0.197 USP9X Bryony Thompson Gene: usp9x has been classified as Green List (High Evidence).
Skeletal dysplasia v0.197 USP9X Bryony Thompson Phenotypes for gene: USP9X were changed from New syndrom with skd to intellectual disability, X-linked 99 MONDO:0010487
Skeletal dysplasia v0.196 USP9X Bryony Thompson Publications for gene: USP9X were set to
Skeletal dysplasia v0.195 USP9X Bryony Thompson Mode of inheritance for gene: USP9X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v0.194 USP9X Bryony Thompson Classified gene: USP9X as Green List (high evidence)
Skeletal dysplasia v0.194 USP9X Bryony Thompson Gene: usp9x has been classified as Green List (High Evidence).
Skeletal dysplasia v0.193 SMARCE1 Bryony Thompson Marked gene: SMARCE1 as ready
Skeletal dysplasia v0.193 SMARCE1 Bryony Thompson Gene: smarce1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.193 SMARCE1 Bryony Thompson Phenotypes for gene: SMARCE1 were changed from Coffin-Siris syndrome 5, MIM# 616938 to Coffin-Siris syndrome 5, MIM# 616938
Skeletal dysplasia v0.192 SMARCE1 Bryony Thompson Phenotypes for gene: SMARCE1 were changed from Coffin-Siris syndrome to Coffin-Siris syndrome 5, MIM# 616938
Skeletal dysplasia v0.192 SMARCE1 Bryony Thompson Mode of inheritance for gene: SMARCE1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.191 SMARCE1 Bryony Thompson Publications for gene: SMARCE1 were set to
Skeletal dysplasia v0.190 SMARCE1 Bryony Thompson Classified gene: SMARCE1 as Green List (high evidence)
Skeletal dysplasia v0.190 SMARCE1 Bryony Thompson Gene: smarce1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.189 ZNF423 Bryony Thompson Deleted their review
Skeletal dysplasia v0.189 ARSK Bryony Thompson Classified gene: ARSK as Green List (high evidence)
Skeletal dysplasia v0.189 ARSK Bryony Thompson Gene: arsk has been classified as Green List (High Evidence).
Skeletal dysplasia v0.188 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Skeletal dysplasia v0.187 PAM16 Bryony Thompson Marked gene: PAM16 as ready
Skeletal dysplasia v0.187 PAM16 Bryony Thompson Gene: pam16 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.187 PAM16 Bryony Thompson Classified gene: PAM16 as Green List (high evidence)
Skeletal dysplasia v0.187 PAM16 Bryony Thompson Gene: pam16 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.186 MIR17HG Bryony Thompson Marked gene: MIR17HG as ready
Skeletal dysplasia v0.186 MIR17HG Bryony Thompson Gene: mir17hg has been classified as Green List (High Evidence).
Skeletal dysplasia v0.186 MIR17HG Bryony Thompson Classified gene: MIR17HG as Green List (high evidence)
Skeletal dysplasia v0.186 MIR17HG Bryony Thompson Gene: mir17hg has been classified as Green List (High Evidence).
Skeletal dysplasia v0.185 WDPCP Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 TTC8 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 BBS9 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 BBS7 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 BBS5 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 BBS4 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 BBS2 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 BBS10 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 ARL6 Bryony Thompson Deleted their review
Skeletal dysplasia v0.184 KIF5B Zornitza Stark Marked gene: KIF5B as ready
Skeletal dysplasia v0.184 KIF5B Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.184 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from Kyphomelic dysplasia, no OMIM # to Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia
Skeletal dysplasia v0.183 KIF5B Zornitza Stark reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, KIF5B-related, Kyphomelic dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.183 KIF5B Chirag Patel Classified gene: KIF5B as Green List (high evidence)
Skeletal dysplasia v0.183 KIF5B Chirag Patel Gene: kif5b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.182 KIF5B Chirag Patel gene: KIF5B was added
gene: KIF5B was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to PMID: 35342932
Phenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM #
Review for gene: KIF5B was set to GREEN
Added comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants.

Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages.
Sources: Literature
Skeletal dysplasia v0.181 GINS3 Zornitza Stark Marked gene: GINS3 as ready
Skeletal dysplasia v0.181 GINS3 Zornitza Stark Gene: gins3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.181 GINS3 Zornitza Stark Classified gene: GINS3 as Green List (high evidence)
Skeletal dysplasia v0.181 GINS3 Zornitza Stark Gene: gins3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.180 GINS3 Zornitza Stark gene: GINS3 was added
gene: GINS3 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GINS3 were set to 35603789
Phenotypes for gene: GINS3 were set to Meier-Gorlin syndrome, MONDO:0016817, GINS3-related
Review for gene: GINS3 was set to GREEN
Added comment: 7 individuals from 5 families reported, presenting with prenatal and postnatal growth deficiency as well as other features. Three unique missense variants identified, two affecting p.Asp24. These variants are thought to be hypomorphic. Supportive mouse model.
Sources: Literature
Skeletal dysplasia v0.179 UBA2 Zornitza Stark Publications for gene: UBA2 were set to 31332306; 31587267
Skeletal dysplasia v0.178 UBA2 Zornitza Stark Phenotypes for gene: UBA2 were changed from Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly to ACCES syndrome, MIM# 619959; Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly
Skeletal dysplasia v0.177 NFATC2 Zornitza Stark Marked gene: NFATC2 as ready
Skeletal dysplasia v0.177 NFATC2 Zornitza Stark Gene: nfatc2 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.177 NFATC2 Zornitza Stark Classified gene: NFATC2 as Red List (low evidence)
Skeletal dysplasia v0.177 NFATC2 Zornitza Stark Gene: nfatc2 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.176 NFATC2 Paul De Fazio gene: NFATC2 was added
gene: NFATC2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFATC2 were set to 35789258
Phenotypes for gene: NFATC2 were set to Skeletal system disorder MONDO:0005172
Review for gene: NFATC2 was set to RED
gene: NFATC2 was marked as current diagnostic
Added comment: Patient born to consanguineous parents homozygous for a frameshift variant. No other (unaffected) members of the family were homozygous. Family history of recurrent childhood deaths.

After a healthy birth the patient developed painless decreased range of motion at 1.5yrs leading to difficulty with ambulation at 3yrs. Formal orthopedic assessment at age 15 years
demonstrated a neurodevelopmentally normal young man with marked bilateral fixed flexion contractures of knees, hips, and ankles. The main musculoskeletal findings were painless contractures of the large and small joints of the upper and lower limbs, osteochondromas, and osteopenia. Patient was diagnosed with B-cell lymphoma at age 18.

Patient CD8+ T-cells show impaired polyfunctionality, and the patient had an accumulation of non-functional memory CD4+ T-cells. TFH cell function was also impaired.
Sources: Literature
Skeletal dysplasia v0.176 MECOM Zornitza Stark Marked gene: MECOM as ready
Skeletal dysplasia v0.176 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Skeletal dysplasia v0.176 MECOM Chirag Patel Classified gene: MECOM as Green List (high evidence)
Skeletal dysplasia v0.176 MECOM Chirag Patel Gene: mecom has been classified as Green List (High Evidence).
Skeletal dysplasia v0.175 MECOM Chirag Patel gene: MECOM was added
gene: MECOM was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MECOM were set to PMID: 35219593, 26581901, 29519864
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738; Radioulnar synostosis without hematological aberration, no OMIM #
Review for gene: MECOM was set to GREEN
Added comment: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
-Multiple affected families reported

Radioulnar synostosis (RUS) without hematological aberration
-8 families with RUS and no identifiable hematological abnormalities
-WES identified unique missense variants in MECOM
-6 families had variants in residue R781, 2 other variants included I783T and Q777E. All variants clustered within the ninth zinc finger motif of EVI1.
-Functional experiments showed that MECOM R781C led to alterations in TGF-β–mediated transcriptional responses.
Sources: Literature
Skeletal dysplasia v0.174 MTAP Zornitza Stark Marked gene: MTAP as ready
Skeletal dysplasia v0.174 MTAP Zornitza Stark Gene: mtap has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.174 MTAP Zornitza Stark Phenotypes for gene: MTAP were changed from Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250 to Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250
Skeletal dysplasia v0.173 MTAP Zornitza Stark Publications for gene: MTAP were set to
Skeletal dysplasia v0.172 MTAP Zornitza Stark Classified gene: MTAP as Amber List (moderate evidence)
Skeletal dysplasia v0.172 MTAP Zornitza Stark Gene: mtap has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.171 MTAP Zornitza Stark reviewed gene: MTAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 22464254; Phenotypes: Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.171 RIPPLY2 Zornitza Stark Marked gene: RIPPLY2 as ready
Skeletal dysplasia v0.171 RIPPLY2 Zornitza Stark Gene: ripply2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.171 RIPPLY2 Zornitza Stark Phenotypes for gene: RIPPLY2 were changed from Spondylocostal dysostosis 6 - 616566 to Spondylocostal dysostosis 6, MIM# 616566
Skeletal dysplasia v0.170 RIPPLY2 Zornitza Stark Publications for gene: RIPPLY2 were set to 25343988; 26238661
Skeletal dysplasia v0.169 RIPPLY2 Zornitza Stark Mode of inheritance for gene: RIPPLY2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.168 RIPPLY2 Zornitza Stark Classified gene: RIPPLY2 as Green List (high evidence)
Skeletal dysplasia v0.168 RIPPLY2 Zornitza Stark Gene: ripply2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.168 RIPPLY2 Zornitza Stark Classified gene: RIPPLY2 as Green List (high evidence)
Skeletal dysplasia v0.168 RIPPLY2 Zornitza Stark Gene: ripply2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.167 RIPPLY2 Zornitza Stark reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25343988, 33410135, 32212228, 29761784; Phenotypes: Spondylocostal dysostosis 6, MIM# 616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.167 KCNJ2 Ain Roesley Marked gene: KCNJ2 as ready
Skeletal dysplasia v0.167 KCNJ2 Ain Roesley Gene: kcnj2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.167 KCNJ2 Ain Roesley Classified gene: KCNJ2 as Green List (high evidence)
Skeletal dysplasia v0.167 KCNJ2 Ain Roesley Gene: kcnj2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.166 KCNJ2 Ain Roesley gene: KCNJ2 was added
gene: KCNJ2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ2 were set to 20301441
Phenotypes for gene: KCNJ2 were set to Andersen syndrome MIM#170390
Review for gene: KCNJ2 was set to GREEN
gene: KCNJ2 was marked as current diagnostic
Added comment: Established association.

From Genereviews:
Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis.
Sources: Literature
Skeletal dysplasia v0.165 SH3BP2 Zornitza Stark Marked gene: SH3BP2 as ready
Skeletal dysplasia v0.165 SH3BP2 Zornitza Stark Gene: sh3bp2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.165 SH3BP2 Zornitza Stark Publications for gene: SH3BP2 were set to
Skeletal dysplasia v0.164 SH3BP2 Zornitza Stark Mode of pathogenicity for gene: SH3BP2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.163 SH3BP2 Zornitza Stark reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.163 SH3BP2 Samantha Ayres reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381256, 22640988, 20301316, 22153076; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v0.163 SFRP4 Zornitza Stark Marked gene: SFRP4 as ready
Skeletal dysplasia v0.163 SFRP4 Zornitza Stark Gene: sfrp4 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.163 SFRP4 Zornitza Stark Phenotypes for gene: SFRP4 were changed from PYL; Pyle disease 265900; Metaphyseal dysplasia to Pyle disease, MIM#265900
Skeletal dysplasia v0.162 SFRP4 Zornitza Stark Publications for gene: SFRP4 were set to 28100910; 27355534; 26273529; 27117872; 20174869; 24096177; 22965941; 22387305
Skeletal dysplasia v0.161 SFRP4 Zornitza Stark reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyle disease, MIM# 265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.161 SFRP4 Samantha Ayres reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27355534, 31239337; Phenotypes: Pyle disease, MIM#265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.161 TRAPPC2 Zornitza Stark Marked gene: TRAPPC2 as ready
Skeletal dysplasia v0.161 TRAPPC2 Zornitza Stark Gene: trappc2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.161 TRAPPC2 Zornitza Stark Phenotypes for gene: TRAPPC2 were changed from Spondyloepiphyseal dysplasia tarda 313400; Spondyloepiphyseal dysplasia tarda 313400 to Spondyloepiphyseal dysplasia tarda, MIM# 313400
Skeletal dysplasia v0.160 TRAPPC2 Zornitza Stark Publications for gene: TRAPPC2 were set to
Skeletal dysplasia v0.159 TRAPPC2 Zornitza Stark reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431248, 14755465, 33726005, 20301324, 32953644; Phenotypes: Spondyloepiphyseal dysplasia tarda, MIM# 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v0.159 BNIP1 Bryony Thompson Marked gene: BNIP1 as ready
Skeletal dysplasia v0.159 BNIP1 Bryony Thompson Gene: bnip1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.159 BNIP1 Bryony Thompson Classified gene: BNIP1 as Amber List (moderate evidence)
Skeletal dysplasia v0.159 BNIP1 Bryony Thompson Gene: bnip1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.158 BNIP1 Bryony Thompson gene: BNIP1 was added
gene: BNIP1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: BNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BNIP1 were set to 35266227; 31344970
Phenotypes for gene: BNIP1 were set to spondyloepiphyseal dysplasia MONDO:0016761
Review for gene: BNIP1 was set to AMBER
Added comment: Two apparently unrelated cases with spondyloepiphyseal dysplasia from India were identified with the same variant (c.84+3A>T). The kindred coefficient comparison of the 2 cases exome data suggested they were unrelated, however there was a stretch of shared homozygosity suggesting remote consanguinity. ~80% aberrantly spliced BNIP1 pre-mRNAs, reduced BNIP1 mRNA level to ~80%, and BNIP1 protein level reduction by ~50% were detected in one of the cases fibroblasts. A block at the terminal stage of autolysosome formation and/or clearance in patient fibroblasts was suggested based on the data. A drosophila model of the BNIP1 orthologue Sec20 also demonstrated defective autolysosome formation.
Sources: Literature
Skeletal dysplasia v0.157 Zornitza Stark removed gene:SMARCA4 from the panel
Skeletal dysplasia v0.157 Zornitza Stark removed gene:SMARCA2 from the panel
Skeletal dysplasia v0.156 SEMA3A Zornitza Stark Marked gene: SEMA3A as ready
Skeletal dysplasia v0.156 SEMA3A Zornitza Stark Gene: sema3a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.156 SEMA3A Zornitza Stark Phenotypes for gene: SEMA3A were changed from {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; short stature to {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; skeletal anomalies
Skeletal dysplasia v0.155 SEMA3A Zornitza Stark Mode of inheritance for gene: SEMA3A was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.154 SEMA3A Zornitza Stark Classified gene: SEMA3A as Green List (high evidence)
Skeletal dysplasia v0.154 SEMA3A Zornitza Stark Gene: sema3a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.153 SEMA3A Krithika Murali gene: SEMA3A was added
gene: SEMA3A was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: SEMA3A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SEMA3A were set to 28075028; 33369061; 20301509; 21059704; 24124006; 22927827
Phenotypes for gene: SEMA3A were set to {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; short stature
Review for gene: SEMA3A was set to GREEN
Added comment: Heterozygous variants associated with isolated GnRH deficiency with or without anosmia (Kallman syndrome like). More severe phenotype with biallelic SEMA3A variants reported including postnatal short stature and congenital heart defects in 3/3 published, unrelated individuals.

PMID 33369061 Gileta et al 2021 - report x1 patient. Female proband was compound heterozygote for a nonsense variant and a multiexonic deletion of SEMA3A. Presents with postnatal short stature, congenital cardiac anomalies, dysmorphic features, hypogonadotrophic hypogonadism and anosmia.

PMID 28075028 Baumann et al 2017 - report x1 patient. Homozygous LoF variants identified in a proband from a consanguineous Turkish family. Noted at birth to have a high-positioned scapulae, deformed ribs and a lateral clavicular hook. The patient also had upper/lower limb contractures and aberrant right subclavian artery. Mild facial dysmorphism, micropenis and hypogonadotrophic hypogonadism also noted in the first week of life. Postnatal short stature (length 50cm at term birth)

PMID 24124006 Hofmann et al 2013 - first reported biallelic variants in a proband with postnatal short stature, skeletal anomalies of the thorax, congenital heart
defect and camptodactyly
Sources: Literature
Skeletal dysplasia v0.153 TMEM53 Zornitza Stark Marked gene: TMEM53 as ready
Skeletal dysplasia v0.153 TMEM53 Zornitza Stark Gene: tmem53 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.153 TMEM53 Zornitza Stark Classified gene: TMEM53 as Green List (high evidence)
Skeletal dysplasia v0.153 TMEM53 Zornitza Stark Gene: tmem53 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.152 TMEM53 Lucy Spencer gene: TMEM53 was added
gene: TMEM53 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM53 were set to PMID: 33824347
Phenotypes for gene: TMEM53 were set to Primary Bone Dysplasia MONDO: 0018230
Review for gene: TMEM53 was set to GREEN
Added comment: PMID: 33824347- 4 families with sclerosing bone disorder.
Sources: Literature
Skeletal dysplasia v0.152 ARSK Paul De Fazio gene: ARSK was added
gene: ARSK was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSK were set to 34916232; 32856704
Phenotypes for gene: ARSK were set to Mucopolysaccharidosis MONDO:0019249, ARSK-related
Review for gene: ARSK was set to GREEN
gene: ARSK was marked as current diagnostic
Added comment: 4 individuals from 2 unrelated consanguineous families reported with a homozygous missense and an NMD-predicted nonsense variant, who had features of mucopolysaccharidosis such as short stature, coarse facial features and dysostosis multiplex. Urinary GAG excretion was normal by conventional methods, but LC-MS/MS in 2 individuals revealed an increase in specific dermatan sulfate-derived disaccharides. Functional studies showed reduced protein levels and reduced enzyme activity for the nonsense and missense variant respectively.

A mouse model also shows a mucopolysaccharidosis phenotype, albeit milder.

Rated green (2 families, functional evidence, mouse model).
Sources: Literature
Skeletal dysplasia v0.152 MEOX1 Chirag Patel reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24073994, 23290072; Phenotypes: Klippel-Feil syndrome 2, OMIM #214300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.152 SMAD6 Zornitza Stark Marked gene: SMAD6 as ready
Skeletal dysplasia v0.152 SMAD6 Zornitza Stark Gene: smad6 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.152 SMAD6 Zornitza Stark Phenotypes for gene: SMAD6 were changed from 179300 to {Radioulnar synostosis, nonsyndromic} 179300
Skeletal dysplasia v0.151 SMAD6 Zornitza Stark Classified gene: SMAD6 as Green List (high evidence)
Skeletal dysplasia v0.151 SMAD6 Zornitza Stark Gene: smad6 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.150 SMAD6 Zornitza Stark reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Radio-ulnar synostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.150 SMAD6 Chris Richmond gene: SMAD6 was added
gene: SMAD6 was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD6 were set to 31138930
Phenotypes for gene: SMAD6 were set to 179300
Penetrance for gene: SMAD6 were set to Incomplete
Review for gene: SMAD6 was set to GREEN
gene: SMAD6 was marked as current diagnostic
Added comment: Yang et al. (2019) performed exome sequencing on 117 patients with sporadic RUS and found significant enrichment for loss-of-function variants in the SMAD6 gene. Identified 22 SMAD6 rare variants (with a minor allele frequency of less than 0.0001) that occurred in 22 nonsyndromic RUS patients. Logistic regression showed that SMAD6 loss-of-function variants were significantly associated with increased risk of nonsyndromic RUS (OR 430; 95% CI 237.5-780.1; p less than 0.000001). Some inherited from unaffected parents.
Sources: Expert Review
Skeletal dysplasia v0.150 GPX4 Ain Roesley changed review comment from: PMID: 24706940
2x families.
The first, maternally inherited splice and a de novo splice
The second is a consaguineous family was a hom nonsense but DNA from deceased infant and parents were sequenced

PMID: 32827718
1x consaguineous family with 2x infants who died within first week of life. Hom for a fs variant; to: PMID: 24706940
2x families.
The first, maternally inherited splice and a de novo splice
The second is a consaguineous family was a hom nonsense but DNA from deceased infant was unavailable and parents were sequenced

PMID: 32827718
1x consaguineous family with 2x infants who died within first week of life. Hom for a fs variant
Skeletal dysplasia v0.150 GPX4 Zornitza Stark Marked gene: GPX4 as ready
Skeletal dysplasia v0.150 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.150 GPX4 Zornitza Stark Phenotypes for gene: GPX4 were changed from Spondylometaphyseal dysplasia, Sedaghatian type 250220 to Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220
Skeletal dysplasia v0.149 GPX4 Zornitza Stark Publications for gene: GPX4 were set to 24706940
Skeletal dysplasia v0.148 GPX4 Zornitza Stark Classified gene: GPX4 as Green List (high evidence)
Skeletal dysplasia v0.148 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.147 GPX4 Ain Roesley reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v0.147 Zornitza Stark removed gene:C2orf71 from the panel
Skeletal dysplasia v0.146 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
Skeletal dysplasia v0.146 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.146 CYP26B1 Zornitza Stark Phenotypes for gene: CYP26B1 were changed from Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Skeletal dysplasia v0.145 CYP26B1 Zornitza Stark Publications for gene: CYP26B1 were set to
Skeletal dysplasia v0.144 CYP26B1 Zornitza Stark Mode of inheritance for gene: CYP26B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.143 CYP26B1 Zornitza Stark Classified gene: CYP26B1 as Green List (high evidence)
Skeletal dysplasia v0.143 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.142 CYP26B1 Zornitza Stark reviewed gene: CYP26B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27410456, 22019272; Phenotypes: Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.142 HHAT Zornitza Stark Publications for gene: HHAT were set to 24784881; 30912300
Skeletal dysplasia v0.141 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Skeletal dysplasia v0.141 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Skeletal dysplasia v0.140 HHAT Zornitza Stark edited their review of gene: HHAT: Added comment: Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.; Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989; Changed phenotypes: Nivelon-Nivelon-Mabille syndrome 600092
Skeletal dysplasia v0.140 PRKG2 Zornitza Stark Phenotypes for gene: PRKG2 were changed from Acromesomelic dysplasia to Acromesomelic dysplasia 4, MIM# 619636; Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638
Skeletal dysplasia v0.139 PRKG2 Zornitza Stark edited their review of gene: PRKG2: Changed phenotypes: Acromesomelic dysplasia 4, MIM# 619636, Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638
Skeletal dysplasia v0.139 PRKG2 Zornitza Stark Publications for gene: PRKG2 were set to 33106379
Skeletal dysplasia v0.138 PRKG2 Zornitza Stark edited their review of gene: PRKG2: Added comment: PMID 34782440: 4 further families reported.; Changed publications: 33106379, 34782440
Skeletal dysplasia v0.138 IFITM5 Ain Roesley edited their review of gene: IFITM5: Changed mode of pathogenicity: Other
Skeletal dysplasia v0.138 IFITM5 Seb Lunke Publications for gene: IFITM5 were set to
Skeletal dysplasia v0.137 IFITM5 Seb Lunke Marked gene: IFITM5 as ready
Skeletal dysplasia v0.137 IFITM5 Seb Lunke Gene: ifitm5 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.137 IFITM5 Seb Lunke Phenotypes for gene: IFITM5 were changed from Osteogenesis imperfecta, type V 610967 to Osteogenesis imperfecta, type V MIM#610967
Skeletal dysplasia v0.136 IFITM5 Seb Lunke Tag 5'UTR tag was added to gene: IFITM5.
Skeletal dysplasia v0.136 IFITM5 Seb Lunke Added comment: Comment on mode of pathogenicity: LoF not established, alternative neomorph/GoF postulated but not yet conclusively proven
Skeletal dysplasia v0.136 IFITM5 Seb Lunke Mode of pathogenicity for gene: IFITM5 was changed from to Other
Skeletal dysplasia v0.135 IFITM5 Ain Roesley reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta, type V MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v0.135 IFIH1 Ain Roesley reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31898846 28605144 26284909 28475458; Phenotypes: SINGLETON-MERTEN SYNDROME 1 (MIM# 182250); Mode of inheritance: None; Current diagnostic: yes
Skeletal dysplasia v0.135 SIK3 Zornitza Stark Marked gene: SIK3 as ready
Skeletal dysplasia v0.135 SIK3 Zornitza Stark Gene: sik3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.135 SIK3 Zornitza Stark Phenotypes for gene: SIK3 were changed from ?Spondyloepimetaphyseal dysplasia, Krakow type - #618162 to Spondyloepimetaphyseal dysplasia, Krakow type - #618162
Skeletal dysplasia v0.134 SIK3 Zornitza Stark Classified gene: SIK3 as Amber List (moderate evidence)
Skeletal dysplasia v0.134 SIK3 Zornitza Stark Gene: sik3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.133 SIK3 Krithika Murali gene: SIK3 was added
gene: SIK3 was added to Skeletal dysplasia. Sources: Expert list,Literature
Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIK3 were set to 30232230; 22318228
Phenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type - #618162
Review for gene: SIK3 was set to AMBER
Added comment: Biallelic SIK3 variants reported in 2 siblings from a consanguineous family with an uncharacterised skeletal dysplasia. Radiographic features included widened/flared metaphyses with irregular ossifications, motheaten long bones, fragmentation of the proximal metacarpals, rounded vertebral bodies, and a distinctive transverse gap seen in the tibias.

In addition to the skeletal phenotype, the siblings manifested significant developmental delay with brain MRI abnormalities, a severe unclassified immunodeficiency, and normal parathyroid hormone concentration with mild hypercalcemia.

One sibling had a more severe phenotype, particularly immunodeficiency, and died of Epstein-Barr virus induced small muscle cancer at 10 years of age.

Mouse models support impaired chondrocyte development with skeletal dysplasia phenotype.
Sources: Expert list, Literature
Skeletal dysplasia v0.133 STT3A Zornitza Stark Marked gene: STT3A as ready
Skeletal dysplasia v0.133 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.133 STT3A Zornitza Stark Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003
Skeletal dysplasia v0.132 STT3A Zornitza Stark Classified gene: STT3A as Green List (high evidence)
Skeletal dysplasia v0.132 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.131 STT3A Elena Savva gene: STT3A was added
gene: STT3A was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw MIM#615596
Mode of pathogenicity for gene: STT3A was set to Other
Review for gene: STT3A was set to GREEN
Added comment: ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)

PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).
Sources: Literature
Skeletal dysplasia v0.131 BGN Zornitza Stark Marked gene: BGN as ready
Skeletal dysplasia v0.131 BGN Zornitza Stark Gene: bgn has been classified as Green List (High Evidence).
Skeletal dysplasia v0.131 BGN Zornitza Stark Classified gene: BGN as Green List (high evidence)
Skeletal dysplasia v0.131 BGN Zornitza Stark Gene: bgn has been classified as Green List (High Evidence).
Skeletal dysplasia v0.130 GNPNAT1 Zornitza Stark Phenotypes for gene: GNPNAT1 were changed from Rhizomelic skeletal dysplasia to Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Skeletal dysplasia v0.129 GNPNAT1 Zornitza Stark edited their review of gene: GNPNAT1: Changed phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Skeletal dysplasia v0.129 BGN Krithika Murali gene: BGN was added
gene: BGN was added to Skeletal dysplasia. Sources: Expert list,Literature
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BGN were set to 27236923
Phenotypes for gene: BGN were set to Spondyloepimetaphyseal dysplasia, X-linked - MIM# 300106
Review for gene: BGN was set to GREEN
Added comment: Well-established gene-disease associated with X-linked spondyloepimetaphyseal dysplasia (SEMD)
Sources: Expert list, Literature
Skeletal dysplasia v0.129 Zornitza Stark removed gene:IMPDH1 from the panel
Skeletal dysplasia v0.128 Zornitza Stark removed gene:KCNJ13 from the panel
Skeletal dysplasia v0.127 Zornitza Stark removed gene:SPATA7 from the panel
Skeletal dysplasia v0.126 Zornitza Stark removed gene:AIPL1 from the panel
Skeletal dysplasia v0.125 FGF8 Zornitza Stark Marked gene: FGF8 as ready
Skeletal dysplasia v0.125 FGF8 Zornitza Stark Gene: fgf8 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.125 FGF8 Zornitza Stark Publications for gene: FGF8 were set to 24569166
Skeletal dysplasia v0.124 FGF8 Zornitza Stark Classified gene: FGF8 as Amber List (moderate evidence)
Skeletal dysplasia v0.124 FGF8 Zornitza Stark Gene: fgf8 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.123 FGF8 Zornitza Stark Tag SV/CNV tag was added to gene: FGF8.
Skeletal dysplasia v0.123 FGF8 Zornitza Stark reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: None; Publications: 34433009; Phenotypes: Hypoplastic femurs and pelvis, MIM#619545; Mode of inheritance: None
Skeletal dysplasia v0.123 LRRK1 Zornitza Stark Marked gene: LRRK1 as ready
Skeletal dysplasia v0.123 LRRK1 Zornitza Stark Gene: lrrk1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.123 LRRK1 Zornitza Stark Classified gene: LRRK1 as Green List (high evidence)
Skeletal dysplasia v0.123 LRRK1 Zornitza Stark Gene: lrrk1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.122 LRRK1 Zornitza Stark gene: LRRK1 was added
gene: LRRK1 was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: LRRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRK1 were set to 27829680; 27055475; 31571209; 32119750
Phenotypes for gene: LRRK1 were set to Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)
Review for gene: LRRK1 was set to GREEN
Added comment: At least 4 unrelated families reported.
Sources: Expert Review
Skeletal dysplasia v0.121 ARID1B Bryony Thompson Marked gene: ARID1B as ready
Skeletal dysplasia v0.121 ARID1B Bryony Thompson Gene: arid1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.121 ARID1B Bryony Thompson Publications for gene: ARID1B were set to
Skeletal dysplasia v0.120 ARID1B Bryony Thompson Mode of inheritance for gene: ARID1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.119 ARID1B Bryony Thompson changed review comment from: Skeletal limb anomalies, spinal anomalies, and short stature have been reported as a feature of the condition. >3 cases reported.; to: Skeletal limb anomalies, spinal anomalies, and short stature have been reported as a feature of the condition. >3 cases reported, at least one case identified in a skeletal dysplasia cohort.
Skeletal dysplasia v0.119 ARID1B Bryony Thompson Classified gene: ARID1B as Green List (high evidence)
Skeletal dysplasia v0.119 ARID1B Bryony Thompson Gene: arid1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.118 ARID1B Bryony Thompson changed review comment from: Skeletal limb anomalies, spinal anomalies, and short stature have been reported as a feature of the condition. > cases reported.; to: Skeletal limb anomalies, spinal anomalies, and short stature have been reported as a feature of the condition. >3 cases reported.
Skeletal dysplasia v0.118 ARID1B Bryony Thompson reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23929686, 34122524; Phenotypes: Coffin-Siris syndrome 1 MIM#135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v0.118 ARID1A Bryony Thompson Marked gene: ARID1A as ready
Skeletal dysplasia v0.118 ARID1A Bryony Thompson Gene: arid1a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.118 ARID1A Bryony Thompson Publications for gene: ARID1A were set to
Skeletal dysplasia v0.117 ARID1A Bryony Thompson Mode of inheritance for gene: ARID1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.116 ARID1A Bryony Thompson Classified gene: ARID1A as Green List (high evidence)
Skeletal dysplasia v0.116 ARID1A Bryony Thompson Gene: arid1a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.115 ARID1A Bryony Thompson changed review comment from: At least 5 cases have been reported with skeletal anomalies as a feature of the condition. Mosaicism is very common for the gene.; to: At least 5 cases have been reported with skeletal anomalies (brachydactyly and polydactyly) as a feature of the condition. Mosaicism is very common for the gene.
Skeletal dysplasia v0.115 ARID1A Bryony Thompson reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23929686, 32888375; Phenotypes: Coffin-Siris syndrome 2 MM#614607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v0.115 AFF4 Bryony Thompson Marked gene: AFF4 as ready
Skeletal dysplasia v0.115 AFF4 Bryony Thompson Gene: aff4 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.115 AFF4 Bryony Thompson Classified gene: AFF4 as Green List (high evidence)
Skeletal dysplasia v0.115 AFF4 Bryony Thompson Gene: aff4 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.114 AFF4 Bryony Thompson gene: AFF4 was added
gene: AFF4 was added to Skeletal dysplasia. Sources: Other
Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AFF4 were set to 25730767; 31058441
Phenotypes for gene: AFF4 were set to CHOPS syndrome MIM#616368
Mode of pathogenicity for gene: AFF4 was set to Other
Review for gene: AFF4 was set to GREEN
gene: AFF4 was marked as current diagnostic
Added comment: CHOPS syndrome: C for Cognitive impairment and Coarse facies, H for Heart defects, O for Obesity, P for Pulmonary involvement and S for Short stature and Skeletal dysplasia. 8 out of 11 cases had skeletal dysplasia as a feature of the condition. Gain-of-function is the mechanism of disease.
Sources: Other
Skeletal dysplasia v0.113 XYLT2 Bryony Thompson Marked gene: XYLT2 as ready
Skeletal dysplasia v0.113 XYLT2 Bryony Thompson Gene: xylt2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.113 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Skeletal dysplasia v0.113 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.113 KIAA0753 Zornitza Stark Phenotypes for gene: KIAA0753 were changed from ?Orofaciodigital syndrome XV 617127; Joubert syndrome; Short-rib skeletal dysplasia to ?Orofaciodigital syndrome XV 617127; Joubert syndrome 38, MIM# 619476; Short-rib skeletal dysplasia
Skeletal dysplasia v0.112 CUL7 Zornitza Stark Marked gene: CUL7 as ready
Skeletal dysplasia v0.112 CUL7 Zornitza Stark Gene: cul7 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.112 CUL7 Zornitza Stark Phenotypes for gene: CUL7 were changed from 3-M syndrome 1 273750 to 3-M syndrome 1, MIM# 273750; Yakut short stature syndrome
Skeletal dysplasia v0.111 CUL7 Zornitza Stark Publications for gene: CUL7 were set to
Skeletal dysplasia v0.110 CUL7 Zornitza Stark reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16142236, 19225462, 17675530; Phenotypes: 3-M syndrome 1, MIM# 273750, Yakut short stature syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.110 UBA2 Zornitza Stark Classified gene: UBA2 as Green List (high evidence)
Skeletal dysplasia v0.110 UBA2 Zornitza Stark Gene: uba2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.109 UBA2 Ain Roesley reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34159400; Phenotypes: isolated split hand malformation; Mode of inheritance: None
Skeletal dysplasia v0.109 GSC Zornitza Stark Marked gene: GSC as ready
Skeletal dysplasia v0.109 GSC Zornitza Stark Gene: gsc has been classified as Green List (High Evidence).
Skeletal dysplasia v0.109 GSC Zornitza Stark Phenotypes for gene: GSC were changed from Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471; Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471 to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471
Skeletal dysplasia v0.108 GSC Zornitza Stark Publications for gene: GSC were set to
Skeletal dysplasia v0.107 GSC Zornitza Stark reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 24290375; Phenotypes: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.107 DLX5 Zornitza Stark Mode of inheritance for gene: DLX5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.106 DLX5 Zornitza Stark reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.106 SLCO2A1 Zornitza Stark Marked gene: SLCO2A1 as ready
Skeletal dysplasia v0.106 SLCO2A1 Zornitza Stark Gene: slco2a1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.106 SLCO2A1 Zornitza Stark Publications for gene: SLCO2A1 were set to
Skeletal dysplasia v0.105 SLCO2A1 Zornitza Stark Mode of inheritance for gene: SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.104 SLCO2A1 Zornitza Stark reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.104 LAMA5 Bryony Thompson Marked gene: LAMA5 as ready
Skeletal dysplasia v0.104 LAMA5 Bryony Thompson Gene: lama5 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.104 LAMA5 Bryony Thompson gene: LAMA5 was added
gene: LAMA5 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA5 were set to 33242826
Phenotypes for gene: LAMA5 were set to Bent bone dysplasia
Review for gene: LAMA5 was set to RED
Added comment: A single family with 3 affected siblings with biallelic variants, and some supporting in vitro functional assays.
Sources: Literature
Skeletal dysplasia v0.103 TMEM251 Zornitza Stark Phenotypes for gene: TMEM251 were changed from Dysostosis multiplex‐like skeletal dysplasia; severe short stature to Dysostosis multiplex, Ain-Naz type 619345
Skeletal dysplasia v0.102 TMEM251 Zornitza Stark reviewed gene: TMEM251: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysostosis multiplex, Ain-Naz type 619345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.102 UFSP2 Zornitza Stark Marked gene: UFSP2 as ready
Skeletal dysplasia v0.102 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.102 UFSP2 Zornitza Stark Phenotypes for gene: UFSP2 were changed from Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974 to Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974
Skeletal dysplasia v0.101 UFSP2 Zornitza Stark Publications for gene: UFSP2 were set to 28892125; 26428751
Skeletal dysplasia v0.100 UFSP2 Zornitza Stark Mode of inheritance for gene: UFSP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.99 UFSP2 Zornitza Stark Classified gene: UFSP2 as Amber List (moderate evidence)
Skeletal dysplasia v0.99 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.98 UFSP2 Zornitza Stark reviewed gene: UFSP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26428751, 28892125, 32755715; Phenotypes: Hip dysplasia, Beukes type, MIM#142669, Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.98 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Skeletal dysplasia v0.98 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.98 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from No OMIM or G2P phenotype to KINSSHIP syndrome, MIM# 619297
Skeletal dysplasia v0.97 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Skeletal dysplasia v0.96 AFF3 Zornitza Stark Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.95 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Skeletal dysplasia v0.95 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.94 AFF3 Zornitza Stark reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.94 NEPRO Zornitza Stark Classified gene: NEPRO as Amber List (moderate evidence)
Skeletal dysplasia v0.94 NEPRO Zornitza Stark Gene: nepro has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.93 NEPRO Zornitza Stark gene: NEPRO was added
gene: NEPRO was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: NEPRO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEPRO were set to 26633546; 29620724; 31250547
Phenotypes for gene: NEPRO were set to Anauxetic dysplasia 3, MIM618853
Review for gene: NEPRO was set to AMBER
Added comment: PMIDs 26633546, 29620724: 2 families with the same homozygous missense variant, haplotype analysis confirmed the founder nature of the variant. PMID 31250547: 1 family with homozygous novel missense All 5 affected individuals have severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. They also have short metacarpals, broad middle phalanges, and metaphyseal irregularities. No functional studies.
Sources: Literature
Skeletal dysplasia v0.92 CHST11 Zornitza Stark Tag SV/CNV tag was added to gene: CHST11.
Skeletal dysplasia v0.92 CHST11 Zornitza Stark Marked gene: CHST11 as ready
Skeletal dysplasia v0.92 CHST11 Zornitza Stark Gene: chst11 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.92 CHST11 Zornitza Stark Classified gene: CHST11 as Amber List (moderate evidence)
Skeletal dysplasia v0.92 CHST11 Zornitza Stark Gene: chst11 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.91 CHST11 Zornitza Stark gene: CHST11 was added
gene: CHST11 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: CHST11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST11 were set to 26436107; 29514872
Phenotypes for gene: CHST11 were set to Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167
Review for gene: CHST11 was set to AMBER
Added comment: Two unrelated families reported, note one had a homozygous deletion.
Sources: Expert list
Skeletal dysplasia v0.90 MIA3 Zornitza Stark Marked gene: MIA3 as ready
Skeletal dysplasia v0.90 MIA3 Zornitza Stark Gene: mia3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.90 MIA3 Zornitza Stark Classified gene: MIA3 as Amber List (moderate evidence)
Skeletal dysplasia v0.90 MIA3 Zornitza Stark Gene: mia3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.89 MIA3 Zornitza Stark gene: MIA3 was added
gene: MIA3 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIA3 were set to 32101163; 33778321
Phenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269
Review for gene: MIA3 was set to AMBER
Added comment: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability. Four affected siblings reported, homozygous variant affecting splicing. Mouse model has absence of bone mineralization.
Sources: Expert list
Skeletal dysplasia v0.88 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Skeletal dysplasia v0.88 FBN2 Zornitza Stark Gene: fbn2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.88 FBN2 Zornitza Stark Publications for gene: FBN2 were set to
Skeletal dysplasia v0.87 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.86 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33571691; Phenotypes: Contractural arachnodactyly, congenital MIM#121050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.86 DONSON Zornitza Stark Marked gene: DONSON as ready
Skeletal dysplasia v0.86 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Skeletal dysplasia v0.86 DONSON Zornitza Stark Classified gene: DONSON as Green List (high evidence)
Skeletal dysplasia v0.86 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Skeletal dysplasia v0.85 DONSON Zornitza Stark gene: DONSON was added
gene: DONSON was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DONSON were set to 28191891; 28630177; 28191891
Phenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230
Review for gene: DONSON was set to GREEN
Added comment: MISSLA, MIM# 617604 is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly (-2.4 to -10.7 SD), variable short stature (-1.2 SD to -4 SD, although 1 individual had stature of -8.4 SD), and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development. At least 20 unrelated families reported.

Microcephaly-micromelia syndrome (MIM#251230), is a more severe disorder that usually results in intrauterine or perinatal death. Multiple affected individuals reported with homozygous c.1047-9A-G variant, from different ethnicities.
Sources: Expert Review
Skeletal dysplasia v0.84 EN1 Zornitza Stark Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217 to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Skeletal dysplasia v0.83 EN1 Zornitza Stark changed review comment from: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some.

Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene.

Mouse model recapitulated the phenotype.
Sources: Literature; to: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some.

Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene.

Mouse model recapitulated the phenotype.

An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.
Sources: Literature
Skeletal dysplasia v0.83 EN1 Zornitza Stark edited their review of gene: EN1: Changed phenotypes: ENDOVE syndrome, limb-only type, MIM# 619217, ENDOVE syndrome, limb-brain type, MIM# 619218
Skeletal dysplasia v0.83 EN1 Zornitza Stark Marked gene: EN1 as ready
Skeletal dysplasia v0.83 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.83 EN1 Zornitza Stark Classified gene: EN1 as Green List (high evidence)
Skeletal dysplasia v0.83 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.82 EN1 Zornitza Stark gene: EN1 was added
gene: EN1 was added to Skeletal dysplasia. Sources: Literature
SV/CNV, 5'UTR tags were added to gene: EN1.
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217
Review for gene: EN1 was set to GREEN
Added comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some.

Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene.

Mouse model recapitulated the phenotype.
Sources: Literature
Skeletal dysplasia v0.81 SCUBE3 Zornitza Stark Phenotypes for gene: SCUBE3 were changed from Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184; Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies
Skeletal dysplasia v0.80 SCUBE3 Zornitza Stark edited their review of gene: SCUBE3: Changed phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184, Short stature, skeletal abnormalities, craniofacial abnormalities, dental anomalies
Skeletal dysplasia v0.80 FGF9 Zornitza Stark Marked gene: FGF9 as ready
Skeletal dysplasia v0.80 FGF9 Zornitza Stark Gene: fgf9 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.80 FGF9 Zornitza Stark Phenotypes for gene: FGF9 were changed from ?Multiple synostoses syndrome type 3 612961 to Multiple synostoses syndrome type 3 612961
Skeletal dysplasia v0.79 FGF9 Zornitza Stark Publications for gene: FGF9 were set to 19589401
Skeletal dysplasia v0.78 FGF9 Chirag Patel edited their review of gene: FGF9: Added comment: Thuresson et al. (2021) identified a de novo heterozygous missense variant in FGF9 (Pro189Arg) in 16‐year old boy with multiple synostoses syndrome. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding.; Changed publications: PMID: 33140402, 28730625, 19589401, 33174625
Skeletal dysplasia v0.78 FGF9 Chirag Patel Classified gene: FGF9 as Green List (high evidence)
Skeletal dysplasia v0.78 FGF9 Chirag Patel Gene: fgf9 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.77 FGF9 Chirag Patel reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33140402, 28730625, 19589401; Phenotypes: Multiple synostoses syndrome 3, OMIM # 612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v0.77 TMEM251 Bryony Thompson Marked gene: TMEM251 as ready
Skeletal dysplasia v0.77 TMEM251 Bryony Thompson Gene: tmem251 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.77 TMEM251 Bryony Thompson Classified gene: TMEM251 as Amber List (moderate evidence)
Skeletal dysplasia v0.77 TMEM251 Bryony Thompson Gene: tmem251 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.76 TMEM251 Bryony Thompson gene: TMEM251 was added
gene: TMEM251 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 33252156
Phenotypes for gene: TMEM251 were set to Dysostosis multiplex‐like skeletal dysplasia; severe short stature
Review for gene: TMEM251 was set to AMBER
Added comment: Two unrelated consanguineous families with homozygous variants (c.133C>T; p.Arg45Trp and c.215dupA; p.Tyr72Ter), with co-segregation data in one family. Preliminary in vitro functional assays conducted - Tmem251 knockdown by small interfering RNA induced dedifferentiation of rat primary chondrocytes.
Sources: Literature
Skeletal dysplasia v0.75 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Skeletal dysplasia v0.75 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.75 DVL1 Zornitza Stark Phenotypes for gene: DVL1 were changed from Robinow syndrome, autosomal dominant 2 616331; Robinow syndrome, autosomal dominant 2 616331 to Robinow syndrome, autosomal dominant 2, MIM# 616331
Skeletal dysplasia v0.74 DVL1 Zornitza Stark Mode of pathogenicity for gene: DVL1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.73 DVL1 Zornitza Stark Mode of inheritance for gene: DVL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Skeletal dysplasia v0.72 DVL1 Zornitza Stark reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Skeletal dysplasia v0.72 SCUBE3 Zornitza Stark Marked gene: SCUBE3 as ready
Skeletal dysplasia v0.72 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.72 SCUBE3 Zornitza Stark Classified gene: SCUBE3 as Green List (high evidence)
Skeletal dysplasia v0.72 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.71 SCUBE3 Zornitza Stark gene: SCUBE3 was added
gene: SCUBE3 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies
Review for gene: SCUBE3 was set to GREEN
Added comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype.
Sources: Literature
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark edited their review of gene: FBLN1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark changed review comment from: Single association to disease published in literature - reciprocal translocation region t(12;22)(p11.2;q13.3) found in the family. The breakpoint was located in the intron between the last 2 exons of the FBLN1-D splice variant isoform (exons 19-20). Additional pathogenic missense in ClinVar, but a research finding and inherited; to: Single association of mono-allelic variants to disease published in literature - reciprocal translocation region t(12;22)(p11.2;q13.3) found in the family. The breakpoint was located in the intron between the last 2 exons of the FBLN1-D splice variant isoform (exons 19-20). Additional pathogenic missense in ClinVar, but a research finding and inherited.

Single report of homozygous missense in a family with syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy.
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark edited their review of gene: FBLN1: Changed publications: 11836357, 24084572
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark Marked gene: FBLN1 as ready
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark Classified gene: FBLN1 as Red List (low evidence)
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.69 FBLN1 Zornitza Stark reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: 11836357; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.69 MTX2 Zornitza Stark Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Skeletal dysplasia v0.68 MTX2 Zornitza Stark edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Skeletal dysplasia v0.68 HHAT Zornitza Stark Marked gene: HHAT as ready
Skeletal dysplasia v0.68 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.68 HHAT Zornitza Stark Classified gene: HHAT as Amber List (moderate evidence)
Skeletal dysplasia v0.68 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.67 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to AMBER
Added comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia.
Sources: Expert list
Skeletal dysplasia v0.66 TONSL Zornitza Stark Marked gene: TONSL as ready
Skeletal dysplasia v0.66 TONSL Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence).
Skeletal dysplasia v0.66 TONSL Zornitza Stark Classified gene: TONSL as Green List (high evidence)
Skeletal dysplasia v0.66 TONSL Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence).
Skeletal dysplasia v0.65 TONSL Zornitza Stark gene: TONSL was added
gene: TONSL was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TONSL were set to 30773277; 30773278; 32959051
Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510; spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068
Review for gene: TONSL was set to GREEN
Added comment: Associated with Spondyloepimetaphyseal dysplasia, sponastrime type MIM#271510 (AR) in OMIM.

PMID: 30773277 - Burrage et al 2019 - identified, using WES or Sanger sequencing, compound heterozygous variants in TONSL in 9 individuals (8 families) with SPONASTRIME dysplasia. 4 other probands with SPONASTRIME dysplasia did not have biallelic variants in TONSL or in MMS22L, but two of them did have a single heterozygous variants in TONSL. The authors say they cannot exclude deep intronic, promotor variants or large intragenic rearrangements/deletions in these patients. An additional 4 individuals (3 families) with short stature of varied severity and spondylometaphyseal dysplasia with or without immunologic and hematologic abnormalities were also found to have compound heterozygous variants in TONSL.

PMID: 30773278 - Chang et al 2019 - Using WES they identified homozygous or compound heterozygous TONSL variants in 10 of 13 individuals (9 families) with SPONASTRIME dysplasia.

PMID: 32959051 - Micale et al 2020 - report a 9-year-old Italian girl with typical SPONASTRIME dysplasia who was found to have two novel missense variants in TONSL. Each parent was heterozygous for one of the variants. Both variants were found to be very rare in the gnomad database. Patient-derived fibroblasts show increased levels of spontaneous chromosomal breaks, reduced cell proliferation and enhanced apoptosis.
Sources: Literature
Skeletal dysplasia v0.64 TBX6 Zornitza Stark Marked gene: TBX6 as ready
Skeletal dysplasia v0.64 TBX6 Zornitza Stark Gene: tbx6 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.64 TBX6 Zornitza Stark Phenotypes for gene: TBX6 were changed from Spondylocostal dysostosis 5 122600; Spondylocostal dysostosis 5 122600 to Spondylocostal dysostosis 5 122600
Skeletal dysplasia v0.63 TBX6 Zornitza Stark Publications for gene: TBX6 were set to
Skeletal dysplasia v0.62 TBX6 Zornitza Stark Mode of inheritance for gene: TBX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.61 TBX6 Zornitza Stark reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33058178, 31015262, 30636772, 28054739, 23335591, 30307510; Phenotypes: Spondylocostal dysostosis 5, 122600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.61 PRKG2 Zornitza Stark Marked gene: PRKG2 as ready
Skeletal dysplasia v0.61 PRKG2 Zornitza Stark Gene: prkg2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.61 PRKG2 Zornitza Stark Classified gene: PRKG2 as Green List (high evidence)
Skeletal dysplasia v0.61 PRKG2 Zornitza Stark Gene: prkg2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.60 PRKG2 Zornitza Stark gene: PRKG2 was added
gene: PRKG2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKG2 were set to 33106379
Phenotypes for gene: PRKG2 were set to Acromesomelic dysplasia
Review for gene: PRKG2 was set to GREEN
Added comment: - PMID: 33106379 (2020) - Distinct homozygous variants in PRKG2 identified in two unrelated individuals, both with a skeletal dysplasia associated with severe short stature due to acromesomelic limb shortening, brachydactyly, mild to moderate platyspondyly and progressively increasing metaphyseal alterations of the long bones. Functional studies showed both variants result in NMD and disrupt the downstream MAPK signalling pathway in response to FGF2. The role of cGKII, encoded by PRKG2, in skeletal growth has been established in several animal models (references provided in paper).
Sources: Literature
Skeletal dysplasia v0.59 Zornitza Stark removed gene:BCAP31 from the panel
Skeletal dysplasia v0.58 BCAP31 Sue White Classified gene: BCAP31 as Green List (high evidence)
Skeletal dysplasia v0.58 BCAP31 Sue White Gene: bcap31 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.57 BCAP31 Sue White gene: BCAP31 was added
gene: BCAP31 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 32681719
Phenotypes for gene: BCAP31 were set to XL-Schimke; deafness, dystonia and hypomyelination phenotype
Added comment: Deafness, dystonia and hypomyelination phenotype with short stature and features of XL-Schimke syndrome (MIM 300475)
Sources: Literature
Skeletal dysplasia v0.56 WDPCP Zornitza Stark Classified gene: WDPCP as Green List (high evidence)
Skeletal dysplasia v0.56 WDPCP Zornitza Stark Gene: wdpcp has been classified as Green List (High Evidence).
Skeletal dysplasia v0.55 WDPCP Zornitza Stark changed review comment from: Two families reported; the first one with a BBS phenotype, and in the second one affected individual had polysyndactyly and tongue hamartomas, so phenotype consistent with OFD rather than BBS.; to: Four families reported with ciliopathy phenotypes, including BBS, OFD, syndromic retinopathy.
Skeletal dysplasia v0.55 WDPCP Zornitza Stark edited their review of gene: WDPCP: Changed rating: GREEN; Changed publications: 20671153, 25427950, 32055034, 29588463, 28289185
Skeletal dysplasia v0.55 WDPCP Zornitza Stark Publications for gene: WDPCP were set to 28289185; 27158779; 25427950
Skeletal dysplasia v0.54 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Skeletal dysplasia v0.54 WDPCP Zornitza Stark Gene: wdpcp has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.54 WDPCP Zornitza Stark Classified gene: WDPCP as Amber List (moderate evidence)
Skeletal dysplasia v0.54 WDPCP Zornitza Stark Gene: wdpcp has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.53 WDPCP Zornitza Stark reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.53 GPC6 Zornitza Stark Marked gene: GPC6 as ready
Skeletal dysplasia v0.53 GPC6 Zornitza Stark Gene: gpc6 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.53 GPC6 Zornitza Stark Phenotypes for gene: GPC6 were changed from Omodysplasia 1 258315 to Omodysplasia 1 MIM#258315
Skeletal dysplasia v0.52 GPC6 Zornitza Stark Publications for gene: GPC6 were set to
Skeletal dysplasia v0.51 GPC6 Zornitza Stark Tag SV/CNV tag was added to gene: GPC6.
Skeletal dysplasia v0.51 GPC6 Zornitza Stark reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194, 32655339; Phenotypes: Omodysplasia 1 MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.51 GZF1 Zornitza Stark Phenotypes for gene: GZF1 were changed from Larsen syndrome to Joint laxity, short stature, and myopia, MIM# 617662; Larsen-like syndrome
Skeletal dysplasia v0.50 GZF1 Zornitza Stark Publications for gene: GZF1 were set to 28475863
Skeletal dysplasia v0.49 GZF1 Zornitza Stark Classified gene: GZF1 as Green List (high evidence)
Skeletal dysplasia v0.49 GZF1 Zornitza Stark Gene: gzf1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.48 GZF1 Zornitza Stark reviewed gene: GZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33009817, 28475863; Phenotypes: Joint laxity, short stature, and myopia, MIM# 617662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.48 MBTPS1 Zornitza Stark Marked gene: MBTPS1 as ready
Skeletal dysplasia v0.48 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.48 MBTPS1 Zornitza Stark Classified gene: MBTPS1 as Green List (high evidence)
Skeletal dysplasia v0.48 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.47 MBTPS1 Zornitza Stark gene: MBTPS1 was added
gene: MBTPS1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013
Phenotypes for gene: MBTPS1 were set to Skeletal dysplasia
Review for gene: MBTPS1 was set to GREEN
Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature.
Sources: Literature
Skeletal dysplasia v0.46 MTX2 Zornitza Stark Marked gene: MTX2 as ready
Skeletal dysplasia v0.46 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.46 MTX2 Zornitza Stark Classified gene: MTX2 as Green List (high evidence)
Skeletal dysplasia v0.46 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.45 MTX2 Zornitza Stark gene: MTX2 was added
gene: MTX2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Review for gene: MTX2 was set to GREEN
Added comment: Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation.
Sources: Literature
Skeletal dysplasia v0.44 COL27A1 Alison Yeung Classified gene: COL27A1 as Green List (high evidence)
Skeletal dysplasia v0.44 COL27A1 Alison Yeung Gene: col27a1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.43 COL27A1 Alison Yeung Classified gene: COL27A1 as Green List (high evidence)
Skeletal dysplasia v0.43 COL27A1 Alison Yeung Gene: col27a1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.42 COL27A1 Alison Yeung Marked gene: COL27A1 as ready
Skeletal dysplasia v0.42 COL27A1 Alison Yeung Gene: col27a1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.42 COL27A1 Alison Yeung gene: COL27A1 was added
gene: COL27A1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL27A1 were set to 24986830; 28276056; 28322503
Phenotypes for gene: COL27A1 were set to OMIM #615155 Steel Syndrome
Skeletal dysplasia v0.41 ABL1 Bryony Thompson Marked gene: ABL1 as ready
Skeletal dysplasia v0.41 ABL1 Bryony Thompson Gene: abl1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.41 ABL1 Bryony Thompson Publications for gene: ABL1 were set to 28288113
Skeletal dysplasia v0.40 ABL1 Bryony Thompson Classified gene: ABL1 as Green List (high evidence)
Skeletal dysplasia v0.40 ABL1 Bryony Thompson Gene: abl1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.39 ABL1 Bryony Thompson reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 28288113, 30855488, 32643838; Phenotypes: Congenital heart defects and skeletal malformations syndrome MIM#617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.39 GNPNAT1 Zornitza Stark Marked gene: GNPNAT1 as ready
Skeletal dysplasia v0.39 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.39 GNPNAT1 Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence)
Skeletal dysplasia v0.39 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.38 GNPNAT1 Zornitza Stark gene: GNPNAT1 was added
gene: GNPNAT1 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 32591345
Phenotypes for gene: GNPNAT1 were set to Rhizomelic skeletal dysplasia
Review for gene: GNPNAT1 was set to AMBER
Added comment: PMID: 32591345 (2020) - Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype. Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Additional cases required to validate pathogenicity of GNPNAT1.
Sources: Expert list
Skeletal dysplasia v0.37 PLCB3 Zornitza Stark gene: PLCB3 was added
gene: PLCB3 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: PLCB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCB3 were set to 29122926
Phenotypes for gene: PLCB3 were set to Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961
Review for gene: PLCB3 was set to RED
Added comment: Single consanguineous family reported.
Sources: Expert list
Skeletal dysplasia v0.36 EBP Zornitza Stark Marked gene: EBP as ready
Skeletal dysplasia v0.36 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Skeletal dysplasia v0.36 EBP Zornitza Stark Publications for gene: EBP were set to
Skeletal dysplasia v0.35 EBP Crystle Lee reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509714; Phenotypes: Chondrodysplasia punctata, X-linked dominant (MIM#302960); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Skeletal dysplasia v0.35 MCM5 Zornitza Stark Marked gene: MCM5 as ready
Skeletal dysplasia v0.35 MCM5 Zornitza Stark Gene: mcm5 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.35 MCM5 Zornitza Stark Phenotypes for gene: MCM5 were changed from Meier-Gorlin syndrome 8, MIM# 617564 to Meier-Gorlin syndrome 8, MIM# 617564
Skeletal dysplasia v0.35 MCM5 Zornitza Stark Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8 617564 to Meier-Gorlin syndrome 8, MIM# 617564
Skeletal dysplasia v0.34 MCM5 Crystle Lee reviewed gene: MCM5: Rating: RED; Mode of pathogenicity: None; Publications: 28198391; Phenotypes: ?Meier-Gorlin syndrome 8 (MIM#617564); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.34 ACVR1 Ain Roesley reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 19085907, 26776312, 18684712, 23572558, 20463014; Phenotypes: Fibrodysplasia ossificans progressiva (MIM# 135100); Mode of inheritance: None
Skeletal dysplasia v0.34 SETD2 Zornitza Stark Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome 616831; Luscan-Lumish syndrome 616831 to Luscan-Lumish syndrome 616831
Skeletal dysplasia v0.33 NEK9 Zornitza Stark Tag founder tag was added to gene: NEK9.
Skeletal dysplasia v0.33 NEK9 Zornitza Stark Marked gene: NEK9 as ready
Skeletal dysplasia v0.33 NEK9 Zornitza Stark Gene: nek9 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.33 NEK9 Zornitza Stark gene: NEK9 was added
gene: NEK9 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK9 were set to 26908619
Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM# 617022; Skeletal dysplasia
Review for gene: NEK9 was set to RED
Added comment: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data.
Sources: Expert list
Skeletal dysplasia v0.32 COG4 Zornitza Stark Marked gene: COG4 as ready
Skeletal dysplasia v0.32 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.32 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489 to Saul-Wilson syndrome, OMIM #618150
Skeletal dysplasia v0.31 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.31 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.30 COG4 Chirag Patel Classified gene: COG4 as Green List (high evidence)
Skeletal dysplasia v0.30 COG4 Chirag Patel Gene: cog4 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.29 COG4 Chirag Patel changed review comment from: Saul-Wilson syndrome (AD)
14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like)
All have a recurrent de novo heterozygous missense variant (p.Gly516Arg)

Congenital disorder of glycosylation, type IIj (AR)
Sources: Literature; to: Saul-Wilson syndrome (AD)
14 patients reported with DD, skeletal dysplasia changes, cataracts, and growth retardation (progeriod like)
All have a recurrent de novo heterozygous missense variant (p.Gly516Arg)

Congenital disorder of glycosylation, type IIj (AR)
Sources: Literature
Skeletal dysplasia v0.29 COG4 Chirag Patel gene: COG4 was added
gene: COG4 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: COG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COG4 were set to PMID: 31949312; 30290151
Phenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489
Review for gene: COG4 was set to GREEN
Added comment: Saul-Wilson syndrome (AD)
14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like)
All have a recurrent de novo heterozygous missense variant (p.Gly516Arg)

Congenital disorder of glycosylation, type IIj (AR)
Sources: Literature
Skeletal dysplasia v0.28 ANO5 Zornitza Stark Marked gene: ANO5 as ready
Skeletal dysplasia v0.28 ANO5 Zornitza Stark Gene: ano5 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.28 ANO5 Zornitza Stark Publications for gene: ANO5 were set to
Skeletal dysplasia v0.27 ANO5 Zornitza Stark Mode of pathogenicity for gene: ANO5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.26 ANO5 Zornitza Stark Mode of inheritance for gene: ANO5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.26 ANO5 Zornitza Stark Mode of inheritance for gene: ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.25 ANO5 Zornitza Stark Mode of inheritance for gene: ANO5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.25 ANO5 Zornitza Stark Mode of inheritance for gene: ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.24 ANO5 Bryony Thompson reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 28176803, 32112655; Phenotypes: Gnathodiaphyseal dysplasia MIM#166260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.24 RUNX2 Zornitza Stark Marked gene: RUNX2 as ready
Skeletal dysplasia v0.24 RUNX2 Zornitza Stark Gene: runx2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.24 MMP9 Zornitza Stark Marked gene: MMP9 as ready
Skeletal dysplasia v0.24 MMP9 Zornitza Stark Gene: mmp9 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.24 SRP54 Zornitza Stark Marked gene: SRP54 as ready
Skeletal dysplasia v0.24 SRP54 Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.24 DNAJC21 Zornitza Stark Marked gene: DNAJC21 as ready
Skeletal dysplasia v0.24 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.24 EFL1 Zornitza Stark Marked gene: EFL1 as ready
Skeletal dysplasia v0.24 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.24 RUNX2 Tiong Tan Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Cleidocranial dysplasia 119600 for gene: RUNX2
Skeletal dysplasia v0.24 MMP9 Tiong Tan Added phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 for gene: MMP9
Publications for gene MMP9 were updated from 28342220; 19615667 to 28342220; 19615667
Skeletal dysplasia v0.24 MMP13 Tiong Tan Added phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13
Skeletal dysplasia v0.24 SRP54 Tiong Tan Added phenotypes 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 for gene: SRP54
Skeletal dysplasia v0.24 DNAJC21 Tiong Tan Added phenotypes BMFS3; 617052 BONE MARROW FAILURE SYNDROME 3 for gene: DNAJC21
Skeletal dysplasia v0.24 EFL1 Tiong Tan Added phenotypes 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2 for gene: EFL1
Skeletal dysplasia v0.24 SBDS Tiong Tan Added phenotypes Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 for gene: SBDS
Skeletal dysplasia v0.24 PTH1R Tiong Tan Added phenotypes Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Metaphyseal chondrodysplasia, Murk Jansen type 156400; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R
Skeletal dysplasia v0.24 RMRP Tiong Tan Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP
Skeletal dysplasia v0.24 POLR1D Tiong Tan Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D
Skeletal dysplasia v0.24 COL10A1 Tiong Tan Added phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 for gene: COL10A1
Skeletal dysplasia v0.24 RUNX2 Tiong Tan Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Cleidocranial dysplasia 119600 for gene: RUNX2
Skeletal dysplasia v0.24 MMP9 Tiong Tan Added phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 for gene: MMP9
Publications for gene MMP9 were updated from 19615667; 28342220 to 28342220; 19615667
Skeletal dysplasia v0.24 MMP13 Tiong Tan Added phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13
Skeletal dysplasia v0.24 SRP54 Tiong Tan Added phenotypes 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 for gene: SRP54
Skeletal dysplasia v0.24 DNAJC21 Tiong Tan Added phenotypes BMFS3; 617052 BONE MARROW FAILURE SYNDROME 3 for gene: DNAJC21
Skeletal dysplasia v0.24 EFL1 Tiong Tan Added phenotypes 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2 for gene: EFL1
Skeletal dysplasia v0.24 SBDS Tiong Tan Added phenotypes Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 for gene: SBDS
Skeletal dysplasia v0.24 PTH1R Tiong Tan Added phenotypes Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Metaphyseal chondrodysplasia, Murk Jansen type 156400; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R
Skeletal dysplasia v0.24 RMRP Tiong Tan Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP
Skeletal dysplasia v0.24 POLR1D Tiong Tan Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D
Skeletal dysplasia v0.24 COL10A1 Tiong Tan Added phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 for gene: COL10A1
Skeletal dysplasia v0.23 RUNX2 Tiong Tan Source Victorian Clinical Genetics Services was added to RUNX2.
Added phenotypes Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia 119600 for gene: RUNX2
Skeletal dysplasia v0.23 MMP9 Tiong Tan Source Victorian Clinical Genetics Services was added to MMP9.
Source Expert Review Green was added to MMP9.
Mode of inheritance for gene MMP9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 for gene: MMP9
Publications for gene MMP9 were updated from 28342220; 19615667 to 19615667; 28342220
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v0.23 MMP13 Tiong Tan Source Victorian Clinical Genetics Services was added to MMP13.
Added phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13
Skeletal dysplasia v0.23 SRP54 Tiong Tan gene: SRP54 was added
gene: SRP54 was added to Skeletal dysplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SRP54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRP54 were set to 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
Skeletal dysplasia v0.23 DNAJC21 Tiong Tan gene: DNAJC21 was added
gene: DNAJC21 was added to Skeletal dysplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC21 were set to 617052 BONE MARROW FAILURE SYNDROME 3; BMFS3
Skeletal dysplasia v0.23 EFL1 Tiong Tan gene: EFL1 was added
gene: EFL1 was added to Skeletal dysplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFL1 were set to 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2
Skeletal dysplasia v0.23 SBDS Tiong Tan Source Victorian Clinical Genetics Services was added to SBDS.
Added phenotypes Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 for gene: SBDS
Skeletal dysplasia v0.23 PTH1R Tiong Tan Source Victorian Clinical Genetics Services was added to PTH1R.
Added phenotypes Metaphyseal chondrodysplasia, Murk Jansen type 156400; Eiken syndrome 600002; Failure of tooth eruption, primary 125350; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R
Skeletal dysplasia v0.23 RMRP Tiong Tan Source Victorian Clinical Genetics Services was added to RMRP.
Added phenotypes Metaphyseal dysplasia without hypotrichosis 250460; Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095 for gene: RMRP
Skeletal dysplasia v0.23 POLR1D Tiong Tan Source Victorian Clinical Genetics Services was added to POLR1D.
Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D
Skeletal dysplasia v0.23 COL10A1 Tiong Tan Source Victorian Clinical Genetics Services was added to COL10A1.
Mode of inheritance for gene COL10A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 for gene: COL10A1
Skeletal dysplasia v0.22 COL10A1 Zornitza Stark Marked gene: COL10A1 as ready
Skeletal dysplasia v0.22 COL10A1 Zornitza Stark Gene: col10a1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.22 COL10A1 Zornitza Stark Publications for gene: COL10A1 were set to
Skeletal dysplasia v0.21 COL10A1 Zornitza Stark Mode of inheritance for gene: COL10A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.20 COL10A1 Kristin Rigbye reviewed gene: COL10A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15880705, 31633898; Phenotypes: Metaphyseal chondrodysplasia, Schmid type, 156500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.20 TAPT1 Zornitza Stark Marked gene: TAPT1 as ready
Skeletal dysplasia v0.20 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.20 TAPT1 Zornitza Stark Classified gene: TAPT1 as Amber List (moderate evidence)
Skeletal dysplasia v0.20 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.19 TAPT1 Zornitza Stark reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.19 WISP3 Zornitza Stark Marked gene: WISP3 as ready
Skeletal dysplasia v0.19 WISP3 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name CCN6
Skeletal dysplasia v0.19 WISP3 Zornitza Stark Gene: wisp3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 WISP3 Zornitza Stark Tag new gene name tag was added to gene: WISP3.
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.18 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Literature
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Marked gene: UBA2 as ready
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Classified gene: UBA2 as Amber List (moderate evidence)
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.16 UBA2 Zornitza Stark gene: UBA2 was added
gene: UBA2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBA2 were set to 31332306; 31587267
Phenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly
Review for gene: UBA2 was set to AMBER
Added comment: PMID: 31332306 - a single individual with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in individuals with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC.
Sources: Literature
Skeletal dysplasia v0.15 LRP6 Elena Savva reviewed gene: LRP6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31332306; Phenotypes: {Coronary artery disease, autosomal dominant, 2} 610947, Tooth agenesis, selective, 7 616724, Split-hand/foot malformation; Mode of inheritance: None
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Marked gene: PKDCC as ready
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Classified gene: PKDCC as Amber List (moderate evidence)
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.14 PKDCC Zornitza Stark gene: PKDCC was added
gene: PKDCC was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKDCC were set to 30478137; 19097194
Phenotypes for gene: PKDCC were set to Rhizomelia; dysmorphism
Review for gene: PKDCC was set to AMBER
Added comment: Two unrelated consanguineous families reported with different homozygous variants
Pre-existing mouse model has similar phenotype
Sources: Literature
Skeletal dysplasia v0.13 MIR140 Zornitza Stark Marked gene: MIR140 as ready
Skeletal dysplasia v0.13 MIR140 Zornitza Stark Gene: mir140 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.13 MIR140 Zornitza Stark Phenotypes for gene: MIR140 were changed from 618618 to Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618
Skeletal dysplasia v0.12 MIR140 Zornitza Stark Classified gene: MIR140 as Green List (high evidence)
Skeletal dysplasia v0.12 MIR140 Zornitza Stark Gene: mir140 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.11 MIR140 Chris Richmond gene: MIR140 was added
gene: MIR140 was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: MIR140 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR140 were set to 30804514; 31633310
Phenotypes for gene: MIR140 were set to 618618
Penetrance for gene: MIR140 were set to unknown
Mode of pathogenicity for gene: MIR140 was set to Other
Review for gene: MIR140 was set to GREEN
Added comment: Single clinical paper (30804514) reports variant in affected mother and child (de novo in mother) and in a separate unrelated female (de novo) with spondylo-epiphyseal dysplasia. Mouse model (21576357) deletion of gene causes impaired longitudinal bone growth. Separate mouse model studies by same authors as clinical paper above (30804514) showed phenotype of mice with same mutation in this gene consistent with the skeletal dysplasia features of patients with the n.24A-G mutation, suggestive of neomorphic effects (mutation produces both loss-of-function and gain-of-function effects.)
Sources: Expert Review
Skeletal dysplasia v0.11 FLNB Zornitza Stark Marked gene: FLNB as ready
Skeletal dysplasia v0.11 FLNB Zornitza Stark Gene: flnb has been classified as Green List (High Evidence).
Skeletal dysplasia v0.11 FLNB Zornitza Stark Publications for gene: FLNB were set to
Skeletal dysplasia v0.10 FLNB Chern Lim reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22190451, 29566257; Phenotypes: Atelosteogenesis, type I AD MIM#108720, Atelosteogenesis, type III AD MIM#108721, Boomerang dysplasia AD MIM#112310, Larsen syndrome AD MIM#150250, Spondylocarpotarsal synostosis syndrome AR MIM#272460; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.10 RSPRY1 Zornitza Stark Marked gene: RSPRY1 as ready
Skeletal dysplasia v0.10 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.10 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Amber List (moderate evidence)
Skeletal dysplasia v0.10 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.9 RSPRY1 Zornitza Stark gene: RSPRY1 was added
gene: RSPRY1 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPRY1 were set to 26365341
Phenotypes for gene: RSPRY1 were set to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585
Review for gene: RSPRY1 was set to AMBER
Added comment: Two unrelated individuals reported, some functional evidence.
Sources: Expert list
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Marked gene: ADI1 as ready
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Gene: adi1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Classified gene: ADI1 as Red List (low evidence)
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Gene: adi1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.7 ADI1 Zornitza Stark reviewed gene: ADI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v0.7 RPL13 Zornitza Stark Marked gene: RPL13 as ready
Skeletal dysplasia v0.7 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.7 RPL13 Zornitza Stark reviewed gene: RPL13: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal Dysplasia with Severe Short Stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.6 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services
Skeletal dysplasia v0.5 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Skeletal dysplasia v0.5 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Skeletal dysplasia v0.4 MESD Zornitza Stark Marked gene: MESD as ready
Skeletal dysplasia v0.4 MESD Zornitza Stark Gene: mesd has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.4 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Skeletal dysplasia. Sources: Other
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Review for gene: MESD was set to GREEN
Added comment: Five unrelated families reported.
Sources: Other
Skeletal dysplasia v0.3 DNMT3A Sue White reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070, 30478443; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.3 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal dysplasia v0.3 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.2 IFT81 Zornitza Stark reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 27666822; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.2 PISD Zornitza Stark Marked gene: PISD as ready
Skeletal dysplasia v0.2 PISD Zornitza Stark Gene: pisd has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.2 PISD Zornitza Stark Classified gene: PISD as Amber List (moderate evidence)
Skeletal dysplasia v0.2 PISD Zornitza Stark Gene: pisd has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.1 PISD Zornitza Stark gene: PISD was added
gene: PISD was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to 30488656; 31263216; 30858161
Phenotypes for gene: PISD were set to Spondylometaphyseal dysplasia with large epiphyses
Review for gene: PISD was set to AMBER
Added comment: Two unrelated probands from non-consanguineous families identified as having the same homozygous variant; some functional data. Note there was some regions of homozygosity identified, indicative of distant relatedness and therefore founder effect.
Three other families reported with bi-allelic variants in this gene in 2019 and a multi-system disorder including short stature, but skeletal findings not as well characterised as in this paper.
Sources: Literature
Skeletal dysplasia v0.0 ISCA-37501-Loss Zornitza Stark Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Skeletal dysplasia. Sources: Expert list,Expert Review Green
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Skeletal dysplasia v0.0 ISCA-37441-Loss Zornitza Stark Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to 15852040; 20140962; 16319823
Phenotypes for Region: ISCA-37441-Loss were set to parietal foramina; mental retardation; intellectual disability; ophthalmologic anomalies; Potocki-Shaffer syndrome; myopia; biparietal foramina; enlarged anterior fontanel; minor craniofacial anomalies; genital abnormalities in males; developmental delay; multiple exostoses; strabismus; 601224
Skeletal dysplasia v0.0 ISCA-37434-Loss Zornitza Stark Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 18245432; 17918734; 22766398
Phenotypes for Region: ISCA-37434-Loss were set to microcephaly; 1p36 deletion syndrome; large anterior fontanels; large, late-closing anterior fontanel; deep-set eyes; central nervous system anomalies; pointed chin; heart defects; poor/absent speech; hypotonia; brachycephaly; hearing impairment; 607872; growth impairment; flat nose; nasal bridge; mental retardation; seizures; epicanthus; microbrachycephaly; posteriorly rotated, low-set, abnormal ears; developmental delay; distinct dysmorphic features
Skeletal dysplasia v0.0 ISCA-37418-Loss Zornitza Stark Region: ISCA-37418-Loss was added
Region: ISCA-37418-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders
Skeletal dysplasia v0.0 ISCA-37406-Loss Zornitza Stark Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 16783566; 10573006
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
Skeletal dysplasia v0.0 ISCA-37394-Loss Zornitza Stark Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045
Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430
Skeletal dysplasia v0.0 ZNF423 Zornitza Stark gene: ZNF423 was added
gene: ZNF423 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ZNF423 was set to
Skeletal dysplasia v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ZIC3 was set to
Skeletal dysplasia v0.0 ZBTB16 Zornitza Stark gene: ZBTB16 was added
gene: ZBTB16 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ZBTB16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZBTB16 were set to Skeletal defects, genital hypoplasia, and mental retardation 612447
Skeletal dysplasia v0.0 XPNPEP3 Zornitza Stark gene: XPNPEP3 was added
gene: XPNPEP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: XPNPEP3 was set to
Skeletal dysplasia v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome -277700
Skeletal dysplasia v0.0 WNT3 Zornitza Stark gene: WNT3 was added
gene: WNT3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT3 were set to 14872406
Phenotypes for gene: WNT3 were set to Tetra-amelia syndrome 273395
Skeletal dysplasia v0.0 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: WHRN was set to
Skeletal dysplasia v0.0 VHL Zornitza Stark gene: VHL was added
gene: VHL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: VHL was set to
Skeletal dysplasia v0.0 VAC14 Zornitza Stark gene: VAC14 was added
gene: VAC14 was added to Skeletal dysplasia. Sources: Other
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAC14 were set to 28635952
Phenotypes for gene: VAC14 were set to Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies)
Skeletal dysplasia v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: USP9X was set to
Phenotypes for gene: USP9X were set to New syndrom with skd
Skeletal dysplasia v0.0 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: USH2A was set to
Skeletal dysplasia v0.0 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: USH1G was set to
Skeletal dysplasia v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: USH1C was set to
Skeletal dysplasia v0.0 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: UMOD was set to
Skeletal dysplasia v0.0 UFSP2 Zornitza Stark gene: UFSP2 was added
gene: UFSP2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: UFSP2 was set to
Publications for gene: UFSP2 were set to 28892125; 26428751
Phenotypes for gene: UFSP2 were set to Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974
Skeletal dysplasia v0.0 TULP1 Zornitza Stark gene: TULP1 was added
gene: TULP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TULP1 was set to
Skeletal dysplasia v0.0 TSC2 Zornitza Stark gene: TSC2 was added
gene: TSC2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TSC2 was set to
Skeletal dysplasia v0.0 TSC1 Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TSC1 was set to
Skeletal dysplasia v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TRMT10A was set to
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature and impaired glucose metabolism, 616033
Skeletal dysplasia v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: TRIM32 was set to
Phenotypes for gene: TRIM32 were set to Polydactyly; Bardet-Biedl syndrome 11, 615988
Skeletal dysplasia v0.0 TOPORS Zornitza Stark gene: TOPORS was added
gene: TOPORS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TOPORS was set to
Skeletal dysplasia v0.0 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: TNXB was set to
Skeletal dysplasia v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to COACH syndrome 216360; Meckel syndrome 3 607361; {Bardet-Biedl syndrome 14, modifier of} 615991; Joubert syndrome 6 610688
Skeletal dysplasia v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TMEM237 was set to
Skeletal dysplasia v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TMEM138 was set to
Skeletal dysplasia v0.0 THPO Zornitza Stark gene: THPO was added
gene: THPO was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THPO were set to 22453305; 19553636
Phenotypes for gene: THPO were set to Thrombocythemia 1 187950 (rare presentation with congenital limb defects)
Mode of pathogenicity for gene: THPO was set to Other - please provide details in the comments
Skeletal dysplasia v0.0 TGDS Zornitza Stark gene: TGDS was added
gene: TGDS was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGDS were set to 25480037
Phenotypes for gene: TGDS were set to Catel-Manzke syndrome 616145
Skeletal dysplasia v0.0 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Skeletal dysplasia. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TDP2 was set to
Phenotypes for gene: TDP2 were set to Dentinogenesis imperfecta, Shields type II, 125490
Skeletal dysplasia v0.0 TCTN1 Zornitza Stark gene: TCTN1 was added
gene: TCTN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TCTN1 was set to
Skeletal dysplasia v0.0 SPECC1L Zornitza Stark gene: SPECC1L was added
gene: SPECC1L was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SPECC1L was set to Other
Publications for gene: SPECC1L were set to 26111080
Phenotypes for gene: SPECC1L were set to Facial clefting, oblique, 1 600251; Opitz GBBB syndrome, type II 145410; Teebi hyperterorism like syndrome 145420
Skeletal dysplasia v0.0 SPATA7 Zornitza Stark gene: SPATA7 was added
gene: SPATA7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SPATA7 was set to
Skeletal dysplasia v0.0 SOX11 Zornitza Stark gene: SOX11 was added
gene: SOX11 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SOX11 was set to
Phenotypes for gene: SOX11 were set to Coffin-Siris syndrome
Skeletal dysplasia v0.0 SMARCE1 Zornitza Stark gene: SMARCE1 was added
gene: SMARCE1 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SMARCE1 was set to
Phenotypes for gene: SMARCE1 were set to Coffin-Siris syndrome
Skeletal dysplasia v0.0 SMARCB1 Zornitza Stark gene: SMARCB1 was added
gene: SMARCB1 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SMARCB1 was set to
Phenotypes for gene: SMARCB1 were set to Coffin Siris syndrome
Skeletal dysplasia v0.0 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SMARCA4 was set to
Phenotypes for gene: SMARCA4 were set to Coffin Siris syndrome
Skeletal dysplasia v0.0 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SMARCA2 was set to
Phenotypes for gene: SMARCA2 were set to Coffin Siris syndrome
Skeletal dysplasia v0.0 SLCO5A1 Zornitza Stark gene: SLCO5A1 was added
gene: SLCO5A1 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS,Expert list
Mode of inheritance for gene: SLCO5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLCO5A1 were set to 20602915
Phenotypes for gene: SLCO5A1 were set to Mesomelia-synostoses syndrome 600383; Mesomelia-synostoses syndrome 600383
Skeletal dysplasia v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHH were set to 25782671
Phenotypes for gene: SHH were set to Preaxial polydactyly type 1 (PPD1)
Skeletal dysplasia v0.0 SEM1 Zornitza Stark gene: SEM1 was added
gene: SEM1 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: SEM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEM1 were set to SHFM1
Skeletal dysplasia v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993
Skeletal dysplasia v0.0 SCNN1G Zornitza Stark gene: SCNN1G was added
gene: SCNN1G was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SCNN1G was set to
Skeletal dysplasia v0.0 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SCNN1B was set to
Skeletal dysplasia v0.0 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SCNN1A was set to
Skeletal dysplasia v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RSPH9 was set to
Skeletal dysplasia v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RSPH4A was set to
Skeletal dysplasia v0.0 RPGRIP1 Zornitza Stark gene: RPGRIP1 was added
gene: RPGRIP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RPGRIP1 was set to
Skeletal dysplasia v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RPGR was set to
Skeletal dysplasia v0.0 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RPE65 was set to
Skeletal dysplasia v0.0 RIPPLY2 Zornitza Stark gene: RIPPLY2 was added
gene: RIPPLY2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: RIPPLY2 was set to
Publications for gene: RIPPLY2 were set to 25343988; 26238661
Phenotypes for gene: RIPPLY2 were set to Spondylocostal dysostosis 6 - 616566
Skeletal dysplasia v0.0 RDH12 Zornitza Stark gene: RDH12 was added
gene: RDH12 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RDH12 was set to
Skeletal dysplasia v0.0 RD3 Zornitza Stark gene: RD3 was added
gene: RD3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RD3 was set to
Skeletal dysplasia v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: RAB3GAP2 was set to
Phenotypes for gene: RAB3GAP2 were set to Martsolf syndrome
Skeletal dysplasia v0.0 PTPRQ Zornitza Stark gene: PTPRQ was added
gene: PTPRQ was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PTPRQ was set to
Phenotypes for gene: PTPRQ were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
Skeletal dysplasia v0.0 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: PLOD1 was set to
Skeletal dysplasia v0.0 PLK4 Zornitza Stark gene: PLK4 was added
gene: PLK4 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: PLK4 was set to
Phenotypes for gene: PLK4 were set to Microcephalic primordial dwarfism
Skeletal dysplasia v0.0 PLEKHM1 Zornitza Stark gene: PLEKHM1 was added
gene: PLEKHM1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red
Mode of inheritance for gene: PLEKHM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLEKHM1 were set to 17997709; 17404618; 27291868
Phenotypes for gene: PLEKHM1 were set to Osteopetrosis, autosomal recessive 6 - 611497; Osteopetrosis, autosomal recessive 6 611497; Osteopetrosis, autosomal dominant 3 - 618107
Skeletal dysplasia v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: PKHD1 was set to
Skeletal dysplasia v0.0 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: PKD2 was set to
Skeletal dysplasia v0.0 PIR Zornitza Stark gene: PIR was added
gene: PIR was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: PIR was set to Unknown
Publications for gene: PIR were set to 16183656; 19766747
Phenotypes for gene: PIR were set to Osteoporosis
Skeletal dysplasia v0.0 PIN1 Zornitza Stark gene: PIN1 was added
gene: PIN1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: PIN1 was set to Unknown
Publications for gene: PIN1 were set to 24569166
Phenotypes for gene: PIN1 were set to No phenotype associated with this gene
Skeletal dysplasia v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: PIK3CA was set to
Phenotypes for gene: PIK3CA were set to CLOVES 612918
Skeletal dysplasia v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: PHF6 was set to
Phenotypes for gene: PHF6 were set to Coffin-Siris syndrome
Skeletal dysplasia v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: PCDH15 was set to
Skeletal dysplasia v0.0 OAT Zornitza Stark gene: OAT was added
gene: OAT was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: OAT was set to
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia 258870
Skeletal dysplasia v0.0 NPPC Zornitza Stark gene: NPPC was added
gene: NPPC was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: NPPC was set to Unknown
Publications for gene: NPPC were set to 11259675
Phenotypes for gene: NPPC were set to Overgrowth syndrome with 2q37 translocations
Skeletal dysplasia v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NPHP4 was set to
Skeletal dysplasia v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Meckel syndrome 7 267010
Skeletal dysplasia v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NPHP1 was set to
Skeletal dysplasia v0.0 NODAL Zornitza Stark gene: NODAL was added
gene: NODAL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NODAL was set to
Skeletal dysplasia v0.0 NME8 Zornitza Stark gene: NME8 was added
gene: NME8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NME8 was set to
Skeletal dysplasia v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NKX2-5 was set to
Skeletal dysplasia v0.0 NIN Zornitza Stark gene: NIN was added
gene: NIN was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIN were set to 23665482; 22933543
Phenotypes for gene: NIN were set to Seckel syndrome 7 614851
Skeletal dysplasia v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NEK8 was set to
Skeletal dysplasia v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: MYO7A was set to
Skeletal dysplasia v0.0 MTAP Zornitza Stark gene: MTAP was added
gene: MTAP was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MTAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MTAP were set to Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250
Skeletal dysplasia v0.0 MMP14 Zornitza Stark gene: MMP14 was added
gene: MMP14 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP14 were set to 22922033
Phenotypes for gene: MMP14 were set to Winchester syndrome 277950
Skeletal dysplasia v0.0 MCM5 Zornitza Stark gene: MCM5 was added
gene: MCM5 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM5 were set to 28198391
Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8 617564
Skeletal dysplasia v0.0 MAN2C1 Zornitza Stark gene: MAN2C1 was added
gene: MAN2C1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: MAN2C1 was set to Unknown
Publications for gene: MAN2C1 were set to 6220608
Phenotypes for gene: MAN2C1 were set to alpha-Mannosidosis
Skeletal dysplasia v0.0 LTBP2 Zornitza Stark gene: LTBP2 was added
gene: LTBP2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: LTBP2 was set to
Publications for gene: LTBP2 were set to 22539340
Phenotypes for gene: LTBP2 were set to Weill-Marchesani
Skeletal dysplasia v0.0 LRP6 Zornitza Stark gene: LRP6 was added
gene: LRP6 was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: LRP6 was set to
Skeletal dysplasia v0.0 LRAT Zornitza Stark gene: LRAT was added
gene: LRAT was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: LRAT was set to
Skeletal dysplasia v0.0 LOXL3 Zornitza Stark gene: LOXL3 was added
gene: LOXL3 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert Review
Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXL3 were set to 25663169
Phenotypes for gene: LOXL3 were set to Stickler syndrome
Skeletal dysplasia v0.0 LFNG Zornitza Stark gene: LFNG was added
gene: LFNG was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red
Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LFNG were set to 30196550; 16385447
Phenotypes for gene: LFNG were set to Spondylocostal dysostosis 3, autosomal recessive 609813
Skeletal dysplasia v0.0 LEFTY2 Zornitza Stark gene: LEFTY2 was added
gene: LEFTY2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: LEFTY2 was set to
Skeletal dysplasia v0.0 LCA5 Zornitza Stark gene: LCA5 was added
gene: LCA5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: LCA5 was set to
Skeletal dysplasia v0.0 KCNJ13 Zornitza Stark gene: KCNJ13 was added
gene: KCNJ13 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: KCNJ13 was set to
Skeletal dysplasia v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: IQCB1 was set to
Skeletal dysplasia v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: INVS was set to
Skeletal dysplasia v0.0 IMPDH1 Zornitza Stark gene: IMPDH1 was added
gene: IMPDH1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: IMPDH1 was set to
Skeletal dysplasia v0.0 IFT88 Zornitza Stark gene: IFT88 was added
gene: IFT88 was added to Skeletal dysplasia. Sources: UKGTN,Expert Review Red,Expert list
Mode of inheritance for gene: IFT88 was set to Unknown
Publications for gene: IFT88 were set to 23034798
Skeletal dysplasia v0.0 IDH2 Zornitza Stark gene: IDH2 was added
gene: IDH2 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: IDH2 was set to Unknown
Publications for gene: IDH2 were set to 22057234; 22057236; 24049096
Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2 613657; Ollier disease/ Dyschondroplasia 166000; Maffucci syndrome 614569; Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875)
Skeletal dysplasia v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: HYLS1 was set to
Skeletal dysplasia v0.0 HOXD11 Zornitza Stark gene: HOXD11 was added
gene: HOXD11 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: HOXD11 was set to
Publications for gene: HOXD11 were set to Fleischman 2013 Blood 122:4837 https://protect-au.mimecast.com/s/EaaSC2xMxLhpLoOwh9oxHM?domain=bloodjournal.org (not in PubMed)
Skeletal dysplasia v0.0 HOXA11 Zornitza Stark gene: HOXA11 was added
gene: HOXA11 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red
Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXA11 were set to 11101832
Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432
Skeletal dysplasia v0.0 HDAC5 Zornitza Stark gene: HDAC5 was added
gene: HDAC5 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: HDAC5 was set to Unknown
Publications for gene: HDAC5 were set to 26723575
Phenotypes for gene: HDAC5 were set to osteoporosis
Skeletal dysplasia v0.0 GUCY2D Zornitza Stark gene: GUCY2D was added
gene: GUCY2D was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: GUCY2D was set to
Skeletal dysplasia v0.0 GREM1 Zornitza Stark gene: GREM1 was added
gene: GREM1 was added to Skeletal dysplasia. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Expert Review Red
Mode of inheritance for gene: GREM1 was set to Unknown
Publications for gene: GREM1 were set to 22561515; 19229034
Skeletal dysplasia v0.0 GLIS2 Zornitza Stark gene: GLIS2 was added
gene: GLIS2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: GLIS2 was set to
Skeletal dysplasia v0.0 GDF3 Zornitza Stark gene: GDF3 was added
gene: GDF3 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: GDF3 was set to
Publications for gene: GDF3 were set to 19864492
Phenotypes for gene: GDF3 were set to Klippel-Feil anomaly with laryngeal malformation - 613702
Skeletal dysplasia v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: GDF1 was set to
Skeletal dysplasia v0.0 FOXH1 Zornitza Stark gene: FOXH1 was added
gene: FOXH1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: FOXH1 was set to
Skeletal dysplasia v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to Skeletal dysplasia. Sources: UKGTN,Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC1 were set to 27193493
Skeletal dysplasia v0.0 FMN1 Zornitza Stark gene: FMN1 was added
gene: FMN1 was added to Skeletal dysplasia. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Expert Review Red
Mode of inheritance for gene: FMN1 was set to Unknown
Phenotypes for gene: FMN1 were set to Animal models with skeletal dysplastic phenotypes
Skeletal dysplasia v0.0 FGF9 Zornitza Stark gene: FGF9 was added
gene: FGF9 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF9 were set to 19589401
Phenotypes for gene: FGF9 were set to ?Multiple synostoses syndrome type 3 612961
Skeletal dysplasia v0.0 FGF8 Zornitza Stark gene: FGF8 was added
gene: FGF8 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: FGF8 was set to Unknown
Publications for gene: FGF8 were set to 24569166
Phenotypes for gene: FGF8 were set to Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel.
Skeletal dysplasia v0.0 FBXW4 Zornitza Stark gene: FBXW4 was added
gene: FBXW4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FBXW4 was set to Unknown
Publications for gene: FBXW4 were set to 19584065; 18067070
Phenotypes for gene: FBXW4 were set to Split-hand/foot malformation 3 syndrome 246560
Mode of pathogenicity for gene: FBXW4 was set to Other - please provide details in the comments
Skeletal dysplasia v0.0 FBLIM1 Zornitza Stark gene: FBLIM1 was added
gene: FBLIM1 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: FBLIM1 was set to
Publications for gene: FBLIM1 were set to 29912021
Phenotypes for gene: FBLIM1 were set to Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628
Skeletal dysplasia v0.0 ETF1 Zornitza Stark gene: ETF1 was added
gene: ETF1 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ETF1 was set to Unknown
Publications for gene: ETF1 were set to 19631775
Skeletal dysplasia v0.0 ESR1 Zornitza Stark gene: ESR1 was added
gene: ESR1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert
Mode of inheritance for gene: ESR1 was set to
Skeletal dysplasia v0.0 EP300 Zornitza Stark gene: EP300 was added
gene: EP300 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: EP300 was set to
Phenotypes for gene: EP300 were set to Rubinstein Taybi syndrome; Rubinstein-Taybi syndrome 180849
Skeletal dysplasia v0.0 DPM3 Zornitza Stark gene: DPM3 was added
gene: DPM3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DPM3 was set to Unknown
Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io 612937
Skeletal dysplasia v0.0 DPM2 Zornitza Stark gene: DPM2 was added
gene: DPM2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu 615042
Skeletal dysplasia v0.0 DOLPP1 Zornitza Stark gene: DOLPP1 was added
gene: DOLPP1 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: DOLPP1 was set to Unknown
Phenotypes for gene: DOLPP1 were set to Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features)
Skeletal dysplasia v0.0 DNAL1 Zornitza Stark gene: DNAL1 was added
gene: DNAL1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAL1 was set to
Skeletal dysplasia v0.0 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAI2 was set to
Skeletal dysplasia v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAI1 was set to
Skeletal dysplasia v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAH5 was set to
Skeletal dysplasia v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAH11 was set to
Skeletal dysplasia v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF3 was set to
Skeletal dysplasia v0.0 DNAAF2 Zornitza Stark gene: DNAAF2 was added
gene: DNAAF2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF2 was set to
Skeletal dysplasia v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF1 was set to
Skeletal dysplasia v0.0 DLX6 Zornitza Stark gene: DLX6 was added
gene: DLX6 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DLX6 was set to Unknown
Publications for gene: DLX6 were set to 28611547
Phenotypes for gene: DLX6 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600; Split-hand/foot malformation 1 183600
Skeletal dysplasia v0.0 DACT1 Zornitza Stark gene: DACT1 was added
gene: DACT1 was added to Skeletal dysplasia. Sources: Other,Literature
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DACT1 were set to 22610794; 19701191; 28054444
Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2,617466; TBS2
Skeletal dysplasia v0.0 CYP26B1 Zornitza Stark gene: CYP26B1 was added
gene: CYP26B1 was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CYP26B1 was set to
Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Skeletal dysplasia v0.0 CRX Zornitza Stark gene: CRX was added
gene: CRX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CRX was set to
Skeletal dysplasia v0.0 CRELD1 Zornitza Stark gene: CRELD1 was added
gene: CRELD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CRELD1 was set to
Skeletal dysplasia v0.0 CRB1 Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CRB1 was set to
Skeletal dysplasia v0.0 COLEC10 Zornitza Stark gene: COLEC10 was added
gene: COLEC10 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: COLEC10 was set to
Publications for gene: COLEC10 were set to 28301481
Phenotypes for gene: COLEC10 were set to 3MC syndrome 3 -248340
Skeletal dysplasia v0.0 COL5A1 Zornitza Stark gene: COL5A1 was added
gene: COL5A1 was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: COL5A1 was set to
Skeletal dysplasia v0.0 COL12A1 Zornitza Stark gene: COL12A1 was added
gene: COL12A1 was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: COL12A1 was set to
Phenotypes for gene: COL12A1 were set to Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339); Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353); {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693)
Skeletal dysplasia v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CLRN1 was set to
Skeletal dysplasia v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CKAP2L was set to
Phenotypes for gene: CKAP2L were set to Syndactyly with microcephaly and MR (Filippi syndrome) 272440
Skeletal dysplasia v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CFTR was set to
Skeletal dysplasia v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CEP41 was set to
Skeletal dysplasia v0.0 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CEP164 was set to
Skeletal dysplasia v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CDH23 was set to
Skeletal dysplasia v0.0 CDC6 Zornitza Stark gene: CDC6 was added
gene: CDC6 was added to Skeletal dysplasia. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC6 were set to Meier-Gorlin syndrome 5 613805
Skeletal dysplasia v0.0 CD96 Zornitza Stark gene: CD96 was added
gene: CD96 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: CD96 was set to
Phenotypes for gene: CD96 were set to C-syndrome 217750 (opitz trigonocephaly)
Skeletal dysplasia v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CCDC40 was set to
Skeletal dysplasia v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CCDC39 was set to
Skeletal dysplasia v0.0 CCDC28B Zornitza Stark gene: CCDC28B was added
gene: CCDC28B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC28B were set to 23015189
Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900
Skeletal dysplasia v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: C5orf42 was set to
Skeletal dysplasia v0.0 C2orf71 Zornitza Stark gene: C2orf71 was added
gene: C2orf71 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: C2orf71 was set to
Skeletal dysplasia v0.0 BANF1 Zornitza Stark gene: BANF1 was added
gene: BANF1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BANF1 were set to Nestor-Guillermo progeria syndrome 614008
Skeletal dysplasia v0.0 B9D2 Zornitza Stark gene: B9D2 was added
gene: B9D2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D2 were set to Meckel syndrome 10 614175
Skeletal dysplasia v0.0 ATXN10 Zornitza Stark gene: ATXN10 was added
gene: ATXN10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ATXN10 was set to
Mode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ARL13B was set to
Skeletal dysplasia v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ARID1B was set to
Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome type 1 - 135900; Coffin-Siris
Skeletal dysplasia v0.0 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: ARID1A was set to
Phenotypes for gene: ARID1A were set to Coffin-Siris
Skeletal dysplasia v0.0 AKT1 Zornitza Stark gene: AKT1 was added
gene: AKT1 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: AKT1 was set to Unknown
Phenotypes for gene: AKT1 were set to Cowden syndrome 6 615109; Proteus syndrome, somatic 176920
Skeletal dysplasia v0.0 AIPL1 Zornitza Stark gene: AIPL1 was added
gene: AIPL1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: AIPL1 was set to
Skeletal dysplasia v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: AHI1 was set to
Skeletal dysplasia v0.0 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: AFF3 was set to Unknown
Phenotypes for gene: AFF3 were set to No OMIM or G2P phenotype
Skeletal dysplasia v0.0 ADI1 Zornitza Stark gene: ADI1 was added
gene: ADI1 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: ADI1 was set to Unknown
Phenotypes for gene: ADI1 were set to No OMIM or G2P phenotype
Skeletal dysplasia v0.0 ADGRV1 Zornitza Stark gene: ADGRV1 was added
gene: ADGRV1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ADGRV1 was set to
Skeletal dysplasia v0.0 ACVR2B Zornitza Stark gene: ACVR2B was added
gene: ACVR2B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: ACVR2B was set to Unknown
Phenotypes for gene: ACVR2B were set to Heterotaxy, visceral, 4, autosomal 613751
Skeletal dysplasia v0.0 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Amber
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD21 were set to 22633399; 27620904; 30716475; 27882533; 24378232
Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4 614701
Skeletal dysplasia v0.0 PAM16 Zornitza Stark gene: PAM16 was added
gene: PAM16 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 27354339; 24786642
Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320
Skeletal dysplasia v0.0 MMP9 Zornitza Stark gene: MMP9 was added
gene: MMP9 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MMP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP9 were set to 28342220; 19615667
Phenotypes for gene: MMP9 were set to Metaphyseal anadysplasia 2 613073
Skeletal dysplasia v0.0 MIR17HG Zornitza Stark gene: MIR17HG was added
gene: MIR17HG was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR17HG were set to 26360630; 21892160; 25391829; 19344873
Phenotypes for gene: MIR17HG were set to FS2; Microcephaly-oculo-digito-esophageal-duodenal syndrome; Brachydactyly with short stature and microcephaly; Feingold syndrome 2, 614326
Skeletal dysplasia v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MANBA were set to 18980795; 16401745; 2079835
Phenotypes for gene: MANBA were set to Beta-mannosidosis, 248510
Skeletal dysplasia v0.0 HNRNPK Zornitza Stark gene: HNRNPK was added
gene: HNRNPK was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Other
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPK were set to 26173930; 26954065; 26638989
Phenotypes for gene: HNRNPK were set to OMIM:616580; Orphanet:453499; Au-Kline syndrome:616580; Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
Skeletal dysplasia v0.0 HDAC4 Zornitza Stark gene: HDAC4 was added
gene: HDAC4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber
Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HDAC4 were set to 15521982; 25402011; 19365831; 20691407
Phenotypes for gene: HDAC4 were set to Albright hereditary osteodystrophy-like syndrome; Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430; Albright hereditary osteodystrophy type 3; Brachydactyly-intellectual disability; Del(2)(q37) 600430
Skeletal dysplasia v0.0 GZF1 Zornitza Stark gene: GZF1 was added
gene: GZF1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature
Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GZF1 were set to 28475863
Phenotypes for gene: GZF1 were set to Larsen syndrome
Skeletal dysplasia v0.0 GPX4 Zornitza Stark gene: GPX4 was added
gene: GPX4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPX4 were set to 24706940
Phenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type 250220
Skeletal dysplasia v0.0 FBLN1 Zornitza Stark gene: FBLN1 was added
gene: FBLN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber
Mode of inheritance for gene: FBLN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBLN1 were set to 24084572
Phenotypes for gene: FBLN1 were set to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
Skeletal dysplasia v0.0 DCC Zornitza Stark gene: DCC was added
gene: DCC was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature
Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCC were set to 28250456
Phenotypes for gene: DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542; Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
Skeletal dysplasia v0.0 B9D1 Zornitza Stark gene: B9D1 was added
gene: B9D1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 21493627; 24886560
Phenotypes for gene: B9D1 were set to Meckel syndrome 9 614209
Skeletal dysplasia v0.0 ABL1 Zornitza Stark gene: ABL1 was added
gene: ABL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABL1 were set to 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, 617602
Mode of pathogenicity for gene: ABL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 ZSWIM6 Zornitza Stark gene: ZSWIM6 was added
gene: ZSWIM6 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZSWIM6 were set to 25105228
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis 603671
Skeletal dysplasia v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy, lethal 275210; Mandibuloacral dysplasia with type B lipodystrophy 608612
Skeletal dysplasia v0.0 YY1 Zornitza Stark gene: YY1 was added
gene: YY1 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YY1 were set to 28575647
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557; Gabriele-de Vries syndrome 617557
Skeletal dysplasia v0.0 XYLT2 Zornitza Stark gene: XYLT2 was added
gene: XYLT2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26987875
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome 605822
Skeletal dysplasia v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2 615777; Desbuquois dysplasia 2 615777
Skeletal dysplasia v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction 616541
Skeletal dysplasia v0.0 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to Ulna and fibula, absence of, with severe limb deficiency 276820; Fuhrmann syndrome 228930
Skeletal dysplasia v0.0 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1 180700
Skeletal dysplasia v0.0 WNT10B Zornitza Stark gene: WNT10B was added
gene: WNT10B was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT10B were set to 24211389
Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6 225300
Skeletal dysplasia v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert,Expert Review Green
Mode of inheritance for gene: WNT1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were set to OI/osteoporosis; osteogenesis imperfecta; Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221
Skeletal dysplasia v0.0 WISP3 Zornitza Stark gene: WISP3 was added
gene: WISP3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230
Skeletal dysplasia v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly 615503
Skeletal dysplasia v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Skeletal dysplasia v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
Skeletal dysplasia v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR19 were set to 24504730; 22019273
Phenotypes for gene: WDR19 were set to Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Asphyxiating thoracic dystrophy 5, 614376; Cranioectodermal dysplasia 4, 614378; SRTD5
Skeletal dysplasia v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDPCP were set to 28289185; 27158779; 25427950
Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085
Skeletal dysplasia v0.0 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to Skeletal dysplasia. Sources: Expert,Expert Review Green
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA, 277440
Skeletal dysplasia v0.0 TYROBP Zornitza Stark gene: TYROBP was added
gene: TYROBP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYROBP were set to Nasu-Hakola disease 221770
Skeletal dysplasia v0.0 TWIST1 Zornitza Stark gene: TWIST1 was added
gene: TWIST1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TWIST1 were set to Craniosynostosis, type 1 123100; Saethre-Chotzen syndrome with eyelid anomalies 101400; Saethre-Chotzen syndrome 101400; Robinow-Sorauf syndrome 180750
Skeletal dysplasia v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Polydactyly; Bardet-Biedl syndrome 8, 615985
Skeletal dysplasia v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to SRTD4; Asphyxiating Thoracic Dystrophy; Nephronophthisis 12, 613820
Skeletal dysplasia v0.0 TRPV6 Zornitza Stark gene: TRPV6 was added
gene: TRPV6 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188
Skeletal dysplasia v0.0 TRPV4 Zornitza Stark gene: TRPV4 was added
gene: TRPV4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPV4 were set to Digital arthropathy-brachydactyly, familial 606835; Parastremmatic dwarfism 168400; Scapuloperoneal spinal muscular atrophy 181405; SED, Maroteaux type 184095; Brachyolmia type 3 113500; Hereditary motor and sensory neuropathy, type IIc 606071; Spinal muscular atrophy, distal, congenital nonprogressive 600175; Metatropic dysplasia 156530; Spondylometaphyseal dysplasia, Kozlowski type 184252
Skeletal dysplasia v0.0 TRPS1 Zornitza Stark gene: TRPS1 was added
gene: TRPS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type I 190350; Trichorhinophalangeal syndrome, type III 190351
Skeletal dysplasia v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to Achondrogenesis, type IA 200600; Achondrogenesis, type IA 200600
Skeletal dysplasia v0.0 TREM2 Zornitza Stark gene: TREM2 was added
gene: TREM2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREM2 were set to Nasu-Hakola disease 221770
Skeletal dysplasia v0.0 TRAPPC2 Zornitza Stark gene: TRAPPC2 was added
gene: TRAPPC2 was added to Skeletal dysplasia. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda 313400; Spondyloepiphyseal dysplasia tarda 313400
Skeletal dysplasia v0.0 TP63 Zornitza Stark gene: TP63 was added
gene: TP63 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP63 were set to Hay-Wells syndrome 106260; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Limb-mammary syndrome 603543; Rapp-Hodgkin syndrome 129400; Orofacial cleft 8 129400; ULT syndrome 103285; Split-hand/foot malformation 4 605289
Skeletal dysplasia v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2 259710
Skeletal dysplasia v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset 239000; Paget disease of bone 5, juvenile-onset 239000
Skeletal dysplasia v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: TNFRSF11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNFRSF11A were set to Osteolysis, familial expansile 174810; Paget disease of bone 2, early-onset 602080; Osteopetrosis, autosomal recessive 7 612301
Skeletal dysplasia v0.0 TMEM38B Zornitza Stark gene: TMEM38B was added
gene: TMEM38B was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert,Expert Review Green
Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV 615066; osteogenesis imperfecta; Osteogenesis imperfecta, type XIV, 615066
Skeletal dysplasia v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Meckel syndrome 11 615397; Joubert syndrome 20 614970
Skeletal dysplasia v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Meckel syndrome 2 603194; Joubert syndrome 2 608091
Skeletal dysplasia v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk 614727
Skeletal dysplasia v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMCO1 were set to 24424126
Phenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980; Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980
Skeletal dysplasia v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2 610168
Skeletal dysplasia v0.0 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4 614816
Skeletal dysplasia v0.0 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB1 were set to Camurati-Engelmann disease 131300; Camurati-Engelmann disease 131300
Skeletal dysplasia v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989
Skeletal dysplasia v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN3 were set to 22883145
Phenotypes for gene: TCTN3 were set to Orofaciodigital syndrome IV 258860; Joubert syndrome 18 614815
Skeletal dysplasia v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Meckel syndrome 8 613885; Joubert syndrome 24 616654
Skeletal dysplasia v0.0 TCTEX1D2 Zornitza Stark gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTEX1D2 were set to 25830415; 26044572
Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
Skeletal dysplasia v0.0 TCOF1 Zornitza Stark gene: TCOF1 was added
gene: TCOF1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1 154500
Skeletal dysplasia v0.0 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1 259700
Skeletal dysplasia v0.0 TBXAS1 Zornitza Stark gene: TBXAS1 was added
gene: TBXAS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: TBXAS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome 231095
Skeletal dysplasia v0.0 TBX6 Zornitza Stark gene: TBX6 was added
gene: TBX6 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TBX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5 122600; Spondylocostal dysostosis 5 122600
Skeletal dysplasia v0.0 TBX5 Zornitza Stark gene: TBX5 was added
gene: TBX5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome 142900
Skeletal dysplasia v0.0 TBX4 Zornitza Stark gene: TBX4 was added
gene: TBX4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome 147891; Ischiocoxopodopatellar syndrome 147891
Skeletal dysplasia v0.0 TBX3 Zornitza Stark gene: TBX3 was added
gene: TBX3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX3 were set to 30654152; 28145909; 28961683
Phenotypes for gene: TBX3 were set to Ulnar-mammary syndrome 181450
Skeletal dysplasia v0.0 TBX15 Zornitza Stark gene: TBX15 was added
gene: TBX15 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX15 were set to 24039145
Phenotypes for gene: TBX15 were set to Cousin syndrome 260660
Skeletal dysplasia v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome 241410; Kenny-Caffey syndrome, type 1 244460.; Kenny-Caffey syndrome, type 1 244460
Skeletal dysplasia v0.0 TAPT1 Zornitza Stark gene: TAPT1 was added
gene: TAPT1 was added to Skeletal dysplasia. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAPT1 were set to 26365339
Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Skeletal dysplasia v0.0 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TALDO1 were set to 25388407; 26238251
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency 606003
Skeletal dysplasia v0.0 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency 272200
Skeletal dysplasia v0.0 SPARC Zornitza Stark gene: SPARC was added
gene: SPARC was added to Skeletal dysplasia. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPARC were set to 26027498
Phenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII 616507
Skeletal dysplasia v0.0 SP7 Zornitza Stark gene: SP7 was added
gene: SP7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SP7 were set to 29382611; 2057926
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII 613849
Skeletal dysplasia v0.0 SOX9 Zornitza Stark gene: SOX9 was added
gene: SOX9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX9 were set to Campomelic dysplasia with autosomal sex reversal 114290; Campomelic dysplasia 114290; Acampomelic campomelic dysplasia 114290
Skeletal dysplasia v0.0 SOST Zornitza Stark gene: SOST was added
gene: SOST was added to Skeletal dysplasia. Sources: NHS GMS,Expert,Expert Review Green
Mode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100; Sclerosteosis 1 269500
Skeletal dysplasia v0.0 SNX10 Zornitza Stark gene: SNX10 was added
gene: SNX10 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX10 were set to 23280965
Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 615085
Skeletal dysplasia v0.0 SNRPB Zornitza Stark gene: SNRPB was added
gene: SNRPB was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: SNRPB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SNRPB were set to Cerebrocostomandibular syndrome 117650
Skeletal dysplasia v0.0 SMOC1 Zornitza Stark gene: SMOC1 was added
gene: SMOC1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMOC1 were set to 21194680; 21194678
Phenotypes for gene: SMOC1 were set to Ophthalmo-acromelic syndrome; Polydactyly; Microphthalmia with limb anomalies 206920
Skeletal dysplasia v0.0 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3 610759
Skeletal dysplasia v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2 300590
Skeletal dysplasia v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia 242900; Schimke immunoosseous dysplasia 242900
Skeletal dysplasia v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Myhre syndrome 139210; Myhre syndrome 139210
Skeletal dysplasia v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3 613795
Skeletal dysplasia v0.0 SLCO2A1 Zornitza Stark gene: SLCO2A1 was added
gene: SLCO2A1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441; Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441
Skeletal dysplasia v0.0 SLC39A13 Zornitza Stark gene: SLC39A13 was added
gene: SLC39A13 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350
Skeletal dysplasia v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia 269250; Schneckenbecken dysplasia 269250
Skeletal dysplasia v0.0 SLC35C1 Zornitza Stark gene: SLC35C1 was added
gene: SLC35C1 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35C1 were set to 12476046; 11326280
Phenotypes for gene: SLC35C1 were set to GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IIc 266265
Skeletal dysplasia v0.0 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria 241530
Skeletal dysplasia v0.0 SLC34A1 Zornitza Stark gene: SLC34A1 was added
gene: SLC34A1 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: SLC34A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC34A1 were set to 12324554; 25050900; 9560283
Phenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
Skeletal dysplasia v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome 602782
Skeletal dysplasia v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to multiple epiphyseal dysplasia; Epiphyseal dysplasia, multiple, 4; ACG1B,DD,rMED; Multiple Epiphyseal Dysplasia, Recessive
Skeletal dysplasia v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile 269920
Skeletal dysplasia v0.0 SLC10A7 Zornitza Stark gene: SLC10A7 was added
gene: SLC10A7 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715
Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363
Skeletal dysplasia v0.0 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome 182212
Skeletal dysplasia v0.0 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis 127300; Short stature, idiopathic familial 300582; Langer mesomelic dysplasia 249700
Skeletal dysplasia v0.0 SH3PXD2B Zornitza Stark gene: SH3PXD2B was added
gene: SH3PXD2B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome 249420
Skeletal dysplasia v0.0 SH3BP2 Zornitza Stark gene: SH3BP2 was added
gene: SH3BP2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SH3BP2 were set to Cherubism 118400
Skeletal dysplasia v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900
Skeletal dysplasia v0.0 SFRP4 Zornitza Stark gene: SFRP4 was added
gene: SFRP4 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: SFRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SFRP4 were set to 28100910; 27355534; 26273529; 27117872; 20174869; 24096177; 22965941; 22387305
Phenotypes for gene: SFRP4 were set to PYL; Pyle disease 265900; Metaphyseal dysplasia
Skeletal dysplasia v0.0 SF3B4 Zornitza Stark gene: SF3B4 was added
gene: SF3B4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SF3B4 were set to Acrofacial dysostosis 1, Nager type 154400
Skeletal dysplasia v0.0 SETD2 Zornitza Stark gene: SETD2 was added
gene: SETD2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SETD2 were set to Luscan-Lumish syndrome 616831; Luscan-Lumish syndrome 616831
Skeletal dysplasia v0.0 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINH1 were set to 20188343; 25510505
Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X, 613848; OI3; Osteogenesis Imperfecta and Decreased Bone Density; {Preterm premature rupture of the membranes, susceptibility to}, 610504; skeletal dysplasias; Osteogenesis Imperfecta, Recessive
Skeletal dysplasia v0.0 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINF1 were set to OI/osteoporosis; osteogenesis imperfecta; Osteogenesis Imperfecta, Recessive; Osteogenesis imperfecta, type VI, 613982
Skeletal dysplasia v0.0 SEC24D Zornitza Stark gene: SEC24D was added
gene: SEC24D was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review,Expert Review Green
Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24D were set to 25683121
Phenotypes for gene: SEC24D were set to Cole-Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA; Osteogenesis Imperfecta, Cole Carpenter syndrome
Skeletal dysplasia v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome 600920
Skeletal dysplasia v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Expert Review
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400
Skeletal dysplasia v0.0 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL4 were set to IVIC syndrome 147750; Okihiro (Duane-radial ray) syndrome 607323
Skeletal dysplasia v0.0 SALL1 Zornitza Stark gene: SALL1 was added
gene: SALL1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
Skeletal dysplasia v0.0 RUNX2 Zornitza Stark gene: RUNX2 was added
gene: RUNX2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RUNX2 were set to Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia 119600
Skeletal dysplasia v0.0 RPL13 Zornitza Stark gene: RPL13 was added
gene: RPL13 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Skeletal dysplasia v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
Skeletal dysplasia v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310
Skeletal dysplasia v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I 210710; Roifman syndrome 616651
Skeletal dysplasia v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095; Cartilage-hair hypoplasia 250250
Skeletal dysplasia v0.0 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In 612015
Skeletal dysplasia v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome 218600; RAPILINO syndrome 266280
Skeletal dysplasia v0.0 RBPJ Zornitza Stark gene: RBPJ was added
gene: RBPJ was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBPJ were set to 28160419; 22883147; 29924900
Phenotypes for gene: RBPJ were set to Adams-Oliver syndrome 3, 614814
Skeletal dysplasia v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome 274000
Skeletal dysplasia v0.0 RASGRP2 Zornitza Stark gene: RASGRP2 was added
gene: RASGRP2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP2 were set to 18709451; 24958846
Phenotypes for gene: RASGRP2 were set to Bleeding disorder, platelet-type, 18 615888, also with osteopetrosis like bone abnormalities and neurodevelopmental defects; Bleeding disorder, platelet-type, 18 615888
Skeletal dysplasia v0.0 RAB33B Zornitza Stark gene: RAB33B was added
gene: RAB33B was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB33B were set to 23042644; 28127940; 22652534; 16470731
Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2 615222
Skeletal dysplasia v0.0 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome 201000
Skeletal dysplasia v0.0 PYCR1 Zornitza Stark gene: PYCR1 was added
gene: PYCR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB 614438; Cutis laxa, autosomal recessive, type IIB 612940
Skeletal dysplasia v0.0 PUF60 Zornitza Stark gene: PUF60 was added
gene: PUF60 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Other,Expert Review Green
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PUF60 were set to 28327570; 24140112; 27804958
Phenotypes for gene: PUF60 were set to Verheij syndrome, 615583; Chromosome 8q24.3 deletion syndrome; VRJS; PUF60 syndrome
Skeletal dysplasia v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; Metachondromatosis 156250; LEOPARD syndrome 1 151100
Skeletal dysplasia v0.0 PTHLH Zornitza Stark gene: PTHLH was added
gene: PTHLH was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTHLH were set to Brachydactyly, type E2 613382; Brachydactyly, type E2 613382
Skeletal dysplasia v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to Eiken syndrome 600002; Chondrodysplasia, Blomstrand type 215045; Failure of tooth eruption, primary 125350; Metaphyseal chondrodysplasia, Murk Jansen type 156400
Skeletal dysplasia v0.0 PTDSS1 Zornitza Stark gene: PTDSS1 was added
gene: PTDSS1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism 151050
Skeletal dysplasia v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency 614023
Skeletal dysplasia v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2 616038
Skeletal dysplasia v0.0 PRMT7 Zornitza Stark gene: PRMT7 was added
gene: PRMT7 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRMT7 were set to Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
Skeletal dysplasia v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PRKAR1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRKAR1A were set to Pigmented nodular adrenocortical disease, primary, 1 610489; Acrodysostosis 1, with or without hormone resistance 101800; Myxoma, intracardiac 255960
Skeletal dysplasia v0.0 PPIB Zornitza Stark gene: PPIB was added
gene: PPIB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX 259440; Osteogenesis imperfecta, type IX 259440
Skeletal dysplasia v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Skeletal dysplasia v0.0 POP1 Zornitza Stark gene: POP1 was added
gene: POP1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POP1 were set to 27380734; 28067412; 21455487
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, 617396
Skeletal dysplasia v0.0 POLR1D Zornitza Stark gene: POLR1D was added
gene: POLR1D was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POLR1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLR1D were set to Treacher Collins syndrome 2 613717
Skeletal dysplasia v0.0 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Treacher Collins syndrome 3 248390
Skeletal dysplasia v0.0 POLR1A Zornitza Stark gene: POLR1A was added
gene: POLR1A was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1A were set to 25913037
Phenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type 616462
Skeletal dysplasia v0.0 POC1A Zornitza Stark gene: POC1A was added
gene: POC1A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1A were set to 26374189; 26162852; 26336158
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813; Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Skeletal dysplasia v0.0 PLS3 Zornitza Stark gene: PLS3 was added
gene: PLS3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis 300910
Skeletal dysplasia v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert,Expert Review Green
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to Bruck syndrome 2 609220
Skeletal dysplasia v0.0 PITX1 Zornitza Stark gene: PITX1 was added
gene: PITX1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PITX1 were set to 23587911; 23022097; 30459804
Phenotypes for gene: PITX1 were set to Liebenberg syndrome 186550; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
Skeletal dysplasia v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R1 were set to SHORT syndrome 269880
Skeletal dysplasia v0.0 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Skeletal dysplasia. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome 618440
Skeletal dysplasia v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1 239300
Skeletal dysplasia v0.0 PIGT Zornitza Stark gene: PIGT was added
gene: PIGT was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGT were set to 28327575; 29868109
Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Skeletal dysplasia v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency 601815; Neu-Laxova syndrome 1 256520
Skeletal dysplasia v0.0 PHEX Zornitza Stark gene: PHEX was added
gene: PHEX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant 307800
Skeletal dysplasia v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM3 were set to 24931394
Phenotypes for gene: PGM3 were set to Immunodeficiency 23 615816; Immunodeficiency 23 615816
Skeletal dysplasia v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX7 were set to 28742517; 7719337; 25800479
Phenotypes for gene: PEX7 were set to Rhizomelic CDP type 1; Rhizomelic chondrodysplasia punctata, type 1, 215100
Skeletal dysplasia v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX5 were set to 18712838
Phenotypes for gene: PEX5 were set to Rhizomelic chondrodysplasia punctata, type 5 616716; Peroxisome biogenesis disorder 2A (Zellweger) 214110
Skeletal dysplasia v0.0 PDE4D Zornitza Stark gene: PDE4D was added
gene: PDE4D was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance 614613; Acrodysostosis 2, with or without hormone resistance 614613
Skeletal dysplasia v0.0 PDE3A Zornitza Stark gene: PDE3A was added
gene: PDE3A was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to 25961942; 9696728
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, 112410
Mode of pathogenicity for gene: PDE3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 PCYT1A Zornitza Stark gene: PCYT1A was added
gene: PCYT1A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy 608940; Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Skeletal dysplasia v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720
Skeletal dysplasia v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to Skeletal dysplasia. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PAX3 were set to 7726174; 26443304; 12949970; 30173992; 8447316; 11683776; 6340503
Phenotypes for gene: PAX3 were set to Waardenburg syndrome, type 3, 148820; Craniofacial-deafness-hand syndrome, 122880; Waardenburg syndrome, type 1, 193500
Skeletal dysplasia v0.0 PAPSS2 Zornitza Stark gene: PAPSS2 was added
gene: PAPSS2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847
Skeletal dysplasia v0.0 P4HB Zornitza Stark gene: P4HB was added
gene: P4HB was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: P4HB were set to 25683117; 29384951; 30063094
Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1 112240; Cole-Carpenter syndrome 1 112240
Mode of pathogenicity for gene: P4HB was set to Other
Skeletal dysplasia v0.0 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,UKGTN
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII 610915
Skeletal dysplasia v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5 259720
Skeletal dysplasia v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3 613803; Meier-Gorlin syndrome 3 613803
Skeletal dysplasia v0.0 ORC4 Zornitza Stark gene: ORC4 was added
gene: ORC4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome 2 613800; Meier-Gorlin syndrome 2 613800
Skeletal dysplasia v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1 224690; Meier-Gorlin syndrome 1 224690
Skeletal dysplasia v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: OFD1 were set to Orofaciodigital syndrome I 311200 XLD; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR; Joubert syndrome 10 300804
Skeletal dysplasia v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M syndrome 2 612921
Skeletal dysplasia v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NSDHL were set to CK syndrome 300831; Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
Skeletal dysplasia v0.0 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NSD1 were set to Sotos syndrome 1 117550
Skeletal dysplasia v0.0 NPR2 Zornitza Stark gene: NPR2 was added
gene: NPR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NPR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to Short stature with nonspecific skeletal abnormalities 616255; Epiphyseal chondrodysplasia, Miura type 615923; Acromesomelic dysplasia, Maroteaux type 602875
Skeletal dysplasia v0.0 NOTCH2 Zornitza Stark gene: NOTCH2 was added
gene: NOTCH2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2 610205; Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500
Skeletal dysplasia v0.0 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH1 were set to 27077170; 25963545; 25132448
Phenotypes for gene: NOTCH1 were set to Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); Limb, scalp and skull defects; Adams-Oliver syndrome 5, 616028; AOS
Skeletal dysplasia v0.0 NOG Zornitza Stark gene: NOG was added
gene: NOG was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOG were set to Tarsal-carpal coalition syndrome 186570; Stapes ankylosis with broad thumb and toes 184460; Brachydactyly, type B2 611377; Symphalangism, proximal, 1A 185800; Multiple synostoses syndrome 1 186500
Skeletal dysplasia v0.0 NLRP3 Zornitza Stark gene: NLRP3 was added
gene: NLRP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NLRP3 were set to Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115; CINCA (Infantile-onset multisystem inflammatory disease) 607115
Skeletal dysplasia v0.0 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia 613330
Skeletal dysplasia v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NIPBL were set to 29379197; 29440723
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1 122470
Skeletal dysplasia v0.0 NFIX Zornitza Stark gene: NFIX was added
gene: NFIX was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NFIX were set to Marshall-Smith syndrome 602535; Sotos syndrome 2 614753
Skeletal dysplasia v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200; Neurofibromatosis, type 1 162200; Neurofibromatosis, familial spinal 162210; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, familial spinal 162210
Skeletal dysplasia v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type I 256550; Sialidosis, type II 256550
Skeletal dysplasia v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short rib thoracic dysplasia 6 with or without polydactyly - 263520; Short rib-polydactyly syndrome, type IIA, 263520; Short Rib Polydactyly Syndrome; SRPS type 2 (Majewski)
Skeletal dysplasia v0.0 NBAS Zornitza Stark gene: NBAS was added
gene: NBAS was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 27789416
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Skeletal dysplasia v0.0 NANS Zornitza Stark gene: NANS was added
gene: NANS was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NANS were set to 27213289
Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442
Skeletal dysplasia v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
Skeletal dysplasia v0.0 MYCN Zornitza Stark gene: MYCN was added
gene: MYCN was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYCN were set to Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
Skeletal dysplasia v0.0 MSX2 Zornitza Stark gene: MSX2 was added
gene: MSX2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSX2 were set to Parietal foramina 1 168500; Parietal foramina with cleidocranial dysplasia 168550; Craniosynostosis, type 2 604757
Skeletal dysplasia v0.0 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If 609180
Skeletal dysplasia v0.0 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MNX1 were set to Currarino syndrome 176450
Skeletal dysplasia v0.0 MMP2 Zornitza Stark gene: MMP2 was added
gene: MMP2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy 259600
Skeletal dysplasia v0.0 MMP13 Zornitza Stark gene: MMP13 was added
gene: MMP13 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MMP13 were set to 24648384
Phenotypes for gene: MMP13 were set to Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400; Metaphyseal anadysplasia 1 602111
Skeletal dysplasia v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome 1 249000; Bardet-Biedl syndrome 13 615990
Skeletal dysplasia v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, 605231; Polydactyly; McKusick-Kaufman syndrome, 236700
Skeletal dysplasia v0.0 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to Keutel syndrome 245150; Keutel syndrome 245150
Skeletal dysplasia v0.0 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESP2 were set to 15122512; 18485326
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive 608681
Skeletal dysplasia v0.0 MEOX1 Zornitza Stark gene: MEOX1 was added
gene: MEOX1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEOX1 were set to Klippel-Feil syndrome 2 214300
Skeletal dysplasia v0.0 MEGF8 Zornitza Stark gene: MEGF8 was added
gene: MEGF8 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to Carpenter syndrome 2 614976
Skeletal dysplasia v0.0 MATN3 Zornitza Stark gene: MATN3 was added
gene: MATN3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MATN3 were set to 16199550; 16287128; 15121775; 30080953; 11479597
Phenotypes for gene: MATN3 were set to MED; Multiple Epiphyseal Dysplasia, Dominant; Disproportionate Short Stature; Spondyloepimetaphyseal dysplasia, 608728; Epiphyseal dysplasia, multiple, 5, 607078; {Osteoarthritis susceptibility 2}, 140600; multiple epiphyseal dysplasia
Skeletal dysplasia v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC syndrome 1 - 257920
Skeletal dysplasia v0.0 MAP3K7 Zornitza Stark gene: MAP3K7 was added
gene: MAP3K7 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP3K7 were set to 27426733
Phenotypes for gene: MAP3K7 were set to Frontometaphyseal dysplasia 2, 617137
Mode of pathogenicity for gene: MAP3K7 was set to Other - please provide details in the comments
Skeletal dysplasia v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II 248500
Skeletal dysplasia v0.0 MAFB Zornitza Stark gene: MAFB was added
gene: MAFB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAFB were set to 30430035; 30305815; 2387013
Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome 166300
Skeletal dysplasia v0.0 LTBP3 Zornitza Stark gene: LTBP3 was added
gene: LTBP3 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: LTBP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LTBP3 were set to 27068007
Phenotypes for gene: LTBP3 were set to Dental anomalies and short stature 610216; Geleophysic dysplasia 3 617809; Geleophysic dysplasia 3 617809
Skeletal dysplasia v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert,Expert Review Green
Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to Exudative vitreoretinopathy 4 601813; Osteoporosis-pseudoglioma syndrome 259770; [Bone mineral density variability 1] 601884; {Osteoporosis} 166710; van Buchem disease, type 2 607636; Osteopetrosis, autosomal dominant 1 607634; Hyperostosis, endosteal 144750; Osteosclerosis 144750
Skeletal dysplasia v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LRP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Sclerosteosis 2 614305; Cenani-Lenz syndactyly syndrome 212780
Skeletal dysplasia v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN2 were set to 29912021
Phenotypes for gene: LPIN2 were set to Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628
Skeletal dysplasia v0.0 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373
Skeletal dysplasia v0.0 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMX1B were set to Nail-patella syndrome 161200; Nail-patella syndrome 161200
Skeletal dysplasia v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, 181350; Heart-hand syndrome, Slovenian type 610140; Foundation Trust) Mandibuloacral dysplasia 248370; Muscular dystrophy, limb-girdle, type 1B 159001; Malouf syndrome 212112; 616516; Cardiomyopathy, dilated, 1A 115200; Lipodystrophy, familial partial, 2 151660; Emery-Dreifuss muscular dystrophy 3, 616516; Charcot-Marie-Tooth disease, type 2B1 605588; Mandibuloacral dysplasia 248370; Restrictive dermopathy, lethal 275210; Hutchinson-Gilford progeria 176670; Muscular dystrophy, congenital 613205
Skeletal dysplasia v0.0 LMBR1 Zornitza Stark gene: LMBR1 was added
gene: LMBR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LMBR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMBR1 were set to 11090342; 26749485
Phenotypes for gene: LMBR1 were set to Laurin-Sandrow syndrome 135750; Polydactyly, preaxial type II 174500; Triphalangeal thumb, type I 174500; Syndactyly, type IV 186200; Acheiropody 200500; Triphalangeal thumb-polysyndactyly syndrome 174500; Hypoplastic or aplastic tibia with polydactyly 188740
Skeletal dysplasia v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559
Skeletal dysplasia v0.0 LEMD3 Zornitza Stark gene: LEMD3 was added
gene: LEMD3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LEMD3 were set to Melorheostosis with osteopoikilosis 155950 IC; Osteopoikilosis 166700; Buschke-Ollendorff syndrome 166700
Skeletal dysplasia v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to Pelger-Huet anomaly with mild skeletal anomalies 618019; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400
Skeletal dysplasia v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 - 147920
Skeletal dysplasia v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2 614120; Acrocallosal syndrome 200990; Joubert syndrome 12 200990; Al-Gazali-Bakalinova syndrome 607131
Skeletal dysplasia v0.0 KIF22 Zornitza Stark gene: KIF22 was added
gene: KIF22 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546
Skeletal dysplasia v0.0 KIAA0753 Zornitza Stark gene: KIAA0753 was added
gene: KIAA0753 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to 28220259; 26643951; 29138412
Phenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV 617127; Joubert syndrome; Short-rib skeletal dysplasia
Skeletal dysplasia v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6B were set to SBBYSS syndrome 603736; GTPTS,Ohdo; Genitopatellar syndrome 606170
Skeletal dysplasia v0.0 INPPL1 Zornitza Stark gene: INPPL1 was added
gene: INPPL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPPL1 were set to Opsismodysplasia 258480
Skeletal dysplasia v0.0 IMPAD1 Zornitza Stark gene: IMPAD1 was added
gene: IMPAD1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type 614078
Skeletal dysplasia v0.0 IL1RN Zornitza Stark gene: IL1RN was added
gene: IL1RN was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency 612852; Interleukin 1 receptor antagonist deficiency 612852
Skeletal dysplasia v0.0 IL11RA Zornitza Stark gene: IL11RA was added
gene: IL11RA was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL11RA were set to 21741611
Phenotypes for gene: IL11RA were set to Craniosynostosis and dental anomalies 614188
Skeletal dysplasia v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Incontinentia pigmenti 308300
Skeletal dysplasia v0.0 IHH Zornitza Stark gene: IHH was added
gene: IHH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IHH were set to Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500
Skeletal dysplasia v0.0 IFT81 Zornitza Stark gene: IFT81 was added
gene: IFT81 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT81 were set to 27666822; 30080953; 28460050; 26275418
Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly -617895; Short-Rib Polydactyly Syndrome
Skeletal dysplasia v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly 611263
Skeletal dysplasia v0.0 IFT52 Zornitza Stark gene: IFT52 was added
gene: IFT52 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT52 were set to 26880018; 30242358; 27466190; 31042281
Phenotypes for gene: IFT52 were set to SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102
Skeletal dysplasia v0.0 IFT43 Zornitza Stark gene: IFT43 was added
gene: IFT43 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT43 were set to 24027799; 22791528; 28400947; 26892345; 21378380
Phenotypes for gene: IFT43 were set to Short-rib thoracic dysplasia 18 with polydactyly - 617866; ?Cranioectodermal dysplasia 3 - 614099
Skeletal dysplasia v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; SRTD10
Skeletal dysplasia v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
Skeletal dysplasia v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 218330
Skeletal dysplasia v0.0 IFITM5 Zornitza Stark gene: IFITM5 was added
gene: IFITM5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Eligibility statement prior genetic testing
Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFITM5 were set to Osteogenesis imperfecta, type V 610967
Skeletal dysplasia v0.0 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFIH1 were set to 28319323; 25620204
Phenotypes for gene: IFIH1 were set to Singleton-Merten syndrome 1, 182250
Mode of pathogenicity for gene: IFIH1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015; Mucopolysaccharidosis Ih 607014
Skeletal dysplasia v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II 309900
Skeletal dysplasia v0.0 IDH1 Zornitza Stark gene: IDH1 was added
gene: IDH1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH1 were set to 22057234; 22025298; 22057236; 24049096
Phenotypes for gene: IDH1 were set to Ollier disease/ Dyschondroplasia 166000; Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569
Mode of pathogenicity for gene: IDH1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 ICK Zornitza Stark gene: ICK was added
gene: ICK was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia 612651
Skeletal dysplasia v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Dyssegmental dysplasia, Silverman-Handmaker type 224410; Schwartz-Jampel syndrome, type 1 255800
Skeletal dysplasia v0.0 HPGD Zornitza Stark gene: HPGD was added
gene: HPGD was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HPGD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to Digital clubbing, isolated congenital 119900; Cranioosteoarthropathy 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100
Skeletal dysplasia v0.0 HOXD13 Zornitza Stark gene: HOXD13 was added
gene: HOXD13 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXD13 were set to 17236141; 12649808; 9758628
Phenotypes for gene: HOXD13 were set to Brachydactyly, type E 113300; Brachydactyly, type D 113200; Syndactyly, type V 186300; Synpolydactyly 1 186000; Brachydactyly-syndactyly syndrome 610713
Skeletal dysplasia v0.0 HOXA13 Zornitza Stark gene: HOXA13 was added
gene: HOXA13 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOXA13 were set to Guttmacher syndrome 176305; Hand-foot-uterus syndrome 140000; Hand-foot-genital syndrome 140000
Skeletal dysplasia v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
Skeletal dysplasia v0.0 HES7 Zornitza Stark gene: HES7 was added
gene: HES7 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686
Skeletal dysplasia v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5 300882; Wilson-Turner syndrome 309585
Skeletal dysplasia v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII 253220
Skeletal dysplasia v0.0 GSC Zornitza Stark gene: GSC was added
gene: GSC was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSC were set to Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471; Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471
Skeletal dysplasia v0.0 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia 1 258315
Skeletal dysplasia v0.0 GORAB Zornitza Stark gene: GORAB was added
gene: GORAB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum 231070
Skeletal dysplasia v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID 252940
Skeletal dysplasia v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma 252605
Skeletal dysplasia v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta 252600; Mucolipidosis II alpha/beta 252500
Skeletal dysplasia v0.0 GNPAT Zornitza Stark gene: GNPAT was added
gene: GNPAT was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to RCDP2; Rhizomelic Chondrodysplasia Punctata; Rhizomelic chondrodysplasia punctata type 2; Chondrodysplasia punctata, rhizomelic, type 2, 222765
Skeletal dysplasia v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia 103580; ACTH-independent macronodular adrenal hyperplasia 219080 IC; Pseudohypoparathyroidism Ib 603233; Pseudopseudohypoparathyroidism 612463; McCune-Albright syndrome, somatic, mosaic 174800; Pseudohypoparathyroidism Ic 612462; Osseous heteroplasia, progressive 166350
Skeletal dysplasia v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI3 were set to {Hypothalamic hamartomas, somatic} 241800; Polydactyly, postaxial, types A1 and B 174200; Greig cephalopolysyndactyly syndrome 175700; Pallister-Hall syndrome 146510; Polydactyly, preaxial, type IV 174700
Skeletal dysplasia v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type II 230600; GM1-gangliosidosis, type III 230650; Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type I 230500
Skeletal dysplasia v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia 164200; Erythrokeratodermia variabilis et progressiva 133200; Palmoplantar keratoderma with congenital alopecia 104100; Hypoplastic left heart syndrome 1 241550; Oculodentodigital dysplasia, autosomal recessive 257850; Craniometaphyseal dysplasia, autosomal recessive 218400; Syndactyly, type III 186100
Skeletal dysplasia v0.0 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: GHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to increased responsiveness to growth hormone 604271; {Hypercholesterolemia, familial, modification of}, 143890; Short stature, 604271; Proportionate Short Stature/Small for Gestational Age; Growth hormone insensitivity; Increased responsiveness to growth hormone; Laron dwarfism, 262500
Skeletal dysplasia v0.0 GDF6 Zornitza Stark gene: GDF6 was added
gene: GDF6 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF6 were set to 18425797
Phenotypes for gene: GDF6 were set to Klippel-Feil syndrome 1, autosomal dominant 118100; Multiple synostoses syndrome type 4 - 617898.
Skeletal dysplasia v0.0 GDF5 Zornitza Stark gene: GDF5 was added
gene: GDF5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type 200700; Multiple synostoses syndrome 2 610017; Du Pan syndrome 228900; Acromesomelic dysplasia, Hunter-Thompson type 201250; Brachydactyly, type C 113100; Brachydactyly, type A1, C 615072; Symphalangism, proximal, 1B 615298; {Osteoarthritis-5} 612400; Brachydactyly, type A2 112600
Skeletal dysplasia v0.0 GALNT3 Zornitza Stark gene: GALNT3 was added
gene: GALNT3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial I 211900; Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900
Skeletal dysplasia v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA 253000
Skeletal dysplasia v0.0 FZD2 Zornitza Stark gene: FZD2 was added
gene: FZD2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD2 were set to 25759469; 29383834; 29383830; 29230162; 30455931
Phenotypes for gene: FZD2 were set to Autosomal dominant omodysplasia type 2 164745; Autosomal dominant omodysplasia 164745
Skeletal dysplasia v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis 230000
Skeletal dysplasia v0.0 FN1 Zornitza Stark gene: FN1 was added
gene: FN1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FN1 were set to 29100092; 30599297
Phenotypes for gene: FN1 were set to Spondylometaphyseal dysplasia, corner fracture type 184255
Mode of pathogenicity for gene: FN1 was set to Other
Skeletal dysplasia v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to Atelosteogenesis, type I 108720; Spondylocarpotarsal synostosis syndrome 272460; Larsen syndrome 150250; Boomerang dysplasia 112310; Atelosteogenesis, type III 108721
Skeletal dysplasia v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FLNA were set to Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type II -304120; Osteodysplasty Melnick Needles 309350 XLD; Melnick Needles syndrome 309350; Otopalatodigital syndrome, type II 304120 XLD; Frontometaphyseal dysplasia 305620 XLR; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type I -311300
Skeletal dysplasia v0.0 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Osteogenesis imperfecta, type XI, 610968; Brucks syndrome 1 - 259450; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Osteogenesis Imperfecta, Recessive; Brucks syndrome
Skeletal dysplasia v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome 216340; Yunis-Varon syndrome 216340; Amyotrophic lateral sclerosis 11 612577
Skeletal dysplasia v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGFR3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FGFR3 were set to Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type II 187601; Thanatophoric dysplasia, type I 187600; SADDAN 616482; LADD syndrome 149730; Achondroplasia 100800; Hypochondroplasia 146000; Muenke syndrome 602849; CATSHL syndrome 610474
Skeletal dysplasia v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FGFR2 were set to Craniosynostosis, nonspecific Crouzon syndrome 123500; Pfeiffer syndrome 101600; Beare-Stevenson cutis gyrata syndrome 123790; Apert syndrome 101200; Gastric cancer, somatic 613659; Craniofacial-skeletal-dermatologic dysplasia 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Bent bone dysplasia syndrome 614592; Jackson-Weiss syndrome 123150; LADD syndrome 149730
Skeletal dysplasia v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Hartsfield syndrome 615465; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Encephalocraniocutaneous lipomatosis, somatic mosaism 613001; Jackson-Weiss syndrome 123150; Trigonocephaly 1 190440
Skeletal dysplasia v0.0 FGF23 Zornitza Stark gene: FGF23 was added
gene: FGF23 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF23 were set to Osteomalacia, tumor-induced; Tumoral calcinosis, hyperphosphatemic, familial 211900; Hypophosphatemic rickets, autosomal dominant 193100
Skeletal dysplasia v0.0 FGF16 Zornitza Stark gene: FGF16 was added
gene: FGF16 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGF16 were set to Metacarpal 4-5 fusion 309630; Metacarpal 4-5 fusion 309630
Skeletal dysplasia v0.0 FGF10 Zornitza Stark gene: FGF10 was added
gene: FGF10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF10 were set to LADD syndrome 149730
Skeletal dysplasia v0.0 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FERMT3 were set to 18709451
Phenotypes for gene: FERMT3 were set to (Moderate osteopetrosis) Kilic SS et al. The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1. J Clin Immunol. 2009 Jan, 29(1):117-22.; Leukocyte adhesion deficiency, type III 612840
Skeletal dysplasia v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital 121050
Skeletal dysplasia v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Stiff skin syndrome 184900; Marfan syndrome 154700; Geleophysic dysplasia 2 614185; Weill-Marchesani syndrome 2, dominant 608328; Acromicric dysplasia 102370
Skeletal dysplasia v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FAM58A were set to STAR syndrome 300707; STAR syndrome 300707
Skeletal dysplasia v0.0 FAM46A Zornitza Stark gene: FAM46A was added
gene: FAM46A was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM46A were set to 29358272
Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII 617952
Skeletal dysplasia v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Raine syndrome 259775
Skeletal dysplasia v0.0 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111A were set to Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000
Skeletal dysplasia v0.0 EZH2 Zornitza Stark gene: EZH2 was added
gene: EZH2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EZH2 were set to Weaver syndrome
Skeletal dysplasia v0.0 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690; 28148688
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425; Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
Skeletal dysplasia v0.0 EXT2 Zornitza Stark gene: EXT2 was added
gene: EXT2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2 133701
Skeletal dysplasia v0.0 EXT1 Zornitza Stark gene: EXT1 was added
gene: EXT1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT1 were set to trichorhinophalangeal syndrome type 2 -150230; Exostoses, multiple, type 13370; Exostoses, multiple, type 1 133700
Skeletal dysplasia v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530
Skeletal dysplasia v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500; ECV1; Ellis-van Creveld Syndrome; Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530
Skeletal dysplasia v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC phocomelia syndrome 269000; Roberts syndrome 268300
Skeletal dysplasia v0.0 ERF Zornitza Stark gene: ERF was added
gene: ERF was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERF were set to 23354439; 26097063
Phenotypes for gene: ERF were set to Craniosynostosis 4 600775; Chitayat syndrome - 617180
Skeletal dysplasia v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to Adams Oliver syndrome 4
Skeletal dysplasia v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Cole disease 615522; Arterial calcification, generalized, of infancy, 1 208000; Hypophosphatemic rickets, autosomal recessive, 2 613312
Skeletal dysplasia v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome 226980; Wolcott-Rallison syndrome 226980
Skeletal dysplasia v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFTUD2 were set to 16760738; 22305528; 19334086
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type 610536
Skeletal dysplasia v0.0 EED Zornitza Stark gene: EED was added
gene: EED was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EED were set to 27868325; 25787343; 28229514; 27193220
Phenotypes for gene: EED were set to Cohen-Gibson syndrome 617561; Cohen-Gibson syndrome 617561
Skeletal dysplasia v0.0 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EBP were set to MEND syndrome; CDPXLD; MEND syndrome-300960 XLR.; X-linked dominant chondrodysplasia punctata; Chondrodysplasia punctata, X-linked dominant, 302960
Skeletal dysplasia v0.0 DYNC2LI1 Zornitza Stark gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to SRTD15 #617088; SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
Skeletal dysplasia v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2H1 were set to 21211617
Phenotypes for gene: DYNC2H1 were set to Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091; Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087; Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff)
Skeletal dysplasia v0.0 DYM Zornitza Stark gene: DYM was added
gene: DYM was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to Smith-McCort dysplasia 607326; Dyggve-Melchior-Clausen disease 223800
Skeletal dysplasia v0.0 DVL3 Zornitza Stark gene: DVL3 was added
gene: DVL3 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to 26924530
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894
Skeletal dysplasia v0.0 DVL1 Zornitza Stark gene: DVL1 was added
gene: DVL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL1 were set to 25817014; 25817016
Phenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2 616331; Robinow syndrome, autosomal dominant 2 616331
Skeletal dysplasia v0.0 DSPP Zornitza Stark gene: DSPP was added
gene: DSPP was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSPP were set to 27973701; 29512331
Phenotypes for gene: DSPP were set to Dentin dysplasia, type II, 125420 -3; Dentinogenesis imperfecta, Shields type III, 125500; Dentinogenesis imperfecta, Shields type II, 125490; Deafness, autosomal dominant 36, with dentinogenesis, 605594
Skeletal dysplasia v0.0 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM1 were set to 23856421; 15669674; 10642602
Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799
Skeletal dysplasia v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Skeletal dysplasia. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 12872255; 22304930; 30653653
Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093
Skeletal dysplasia v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 614219; Adams-Oliver syndrome 2 614219
Skeletal dysplasia v0.0 DNMT3A Zornitza Stark gene: DNMT3A was added
gene: DNMT3A was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNMT3A were set to Tatton-Brown-Rahman syndrome 615879
Skeletal dysplasia v0.0 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were set to Acromesomelic dysplasia, Hunter-Thompson type, 201250; Symphalangism, proximal, 1B, 615298; Hypophosphatemic rickets,autosomal recessive,type 1 (ARHR1); Brachydactyly, type A1, C, 615072; Brachydactyly, type A2, 112600; Du Pan syndrome, 228900; Hypophosphatemic rickets, AR, 241520; Osteogenesis Imperfecta and Decreased Bone Density; Chondrodysplasia, Grebe type, 200700; skeletal dysplasias; Brachydactyly, type C, 113100; {Osteoarthritis-5}, 612400; Multiple synostoses syndrome 2, 610017
Skeletal dysplasia v0.0 DLX5 Zornitza Stark gene: DLX5 was added
gene: DLX5 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: DLX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLX5 were set to 27085093
Phenotypes for gene: DLX5 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Skeletal dysplasia v0.0 DLX3 Zornitza Stark gene: DLX3 was added
gene: DLX3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLX3 were set to 26762616; 26104267
Phenotypes for gene: DLX3 were set to Trichodontoosseous syndrome 190320; Amelogenesis imperfecta, type IV 104510
Skeletal dysplasia v0.0 DLL4 Zornitza Stark gene: DLL4 was added
gene: DLL4 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL4 were set to 26299364
Phenotypes for gene: DLL4 were set to Adams-Oliver syndrome 6, 616589
Skeletal dysplasia v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive 277300
Skeletal dysplasia v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DIS3L2 were set to 22306653
Phenotypes for gene: DIS3L2 were set to Perlman syndrome 267000
Skeletal dysplasia v0.0 DHODH Zornitza Stark gene: DHODH was added
gene: DHODH was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to Miller syndrome (postaxial acrofacial dysostosis) 263750
Skeletal dysplasia v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 9634533
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400
Skeletal dysplasia v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to Desmosterolosis 602398
Skeletal dysplasia v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type 271665; Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported
Skeletal dysplasia v0.0 CYP2R1 Zornitza Stark gene: CYP2R1 was added
gene: CYP2R1 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 22855339; 15128933; 28548312; 25942481
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation, 600081
Skeletal dysplasia v0.0 CYP27B1 Zornitza Stark gene: CYP27B1 was added
gene: CYP27B1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I 264700
Skeletal dysplasia v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome 1 273750
Skeletal dysplasia v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to 28328823
Phenotypes for gene: CTSK were set to Pycnodysostosis 265800
Skeletal dysplasia v0.0 CTSC Zornitza Stark gene: CTSC was added
gene: CTSC was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 26205983; 15727652; 24966751
Phenotypes for gene: CTSC were set to Haim-Munk syndrome 245010,; Haim-Munk syndrome 245010
Skeletal dysplasia v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSA were set to Galactosialidosis 256540
Skeletal dysplasia v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSPP1 were set to 24360803; 24360808
Phenotypes for gene: CSPP1 were set to ORPHA:475 Joubert syndrome; Joubert syndrome 21 615636; ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome 21 615636; ORPHA:564 Meckel syndrome
Skeletal dysplasia v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII 610682
Skeletal dysplasia v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 180849; Rubinstein-Taybi syndrome 180849
Skeletal dysplasia v0.0 CREB3L1 Zornitza Stark gene: CREB3L1 was added
gene: CREB3L1 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review,Expert Review Green
Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CREB3L1 were set to 25007323; 28817112; 29936144.; 30657919
Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI 616229
Skeletal dysplasia v0.0 COMP Zornitza Stark gene: COMP was added
gene: COMP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Eligibility statement prior genetic testing,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COMP were set to Epiphyseal dysplasia, multiple, 1 132400; Pseudoachondroplasia 177170
Skeletal dysplasia v0.0 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLEC11 were set to 28301481; 8933348; 21258343; 2569826
Phenotypes for gene: COLEC11 were set to 3MC syndrome 2 265050
Skeletal dysplasia v0.0 COL9A3 Zornitza Stark gene: COL9A3 was added
gene: COL9A3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Expert Review,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL9A3 were set to MED; Mutiple Epiphyseal Dysplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, with myopathy; Stickler syndrome type VI; multiple epiphyseal dysplasia; multiple epiphyseal dysplasia 3, with or without myopathy - 600969
Skeletal dysplasia v0.0 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, 614284; Epiphyseal dysplasia, multiple, 2 600204; Stickler syndrome, type V 614284; {Intervertebral disc disease, susceptibility to}, 603932
Skeletal dysplasia v0.0 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135
Skeletal dysplasia v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL2A1 were set to Osteoarthritis with mild chondrodysplasia 604864; Czech dysplasia 609162; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; SED congenita 183900; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type I 108300; Stickler sydrome, type I, nonsyndromic ocular 609508; Kniest dysplasia 156550; Platyspondylic skeletal dysplasia, Torrance type 151210; Spondyloperipheral dysplasia 271700; Achondrogenesis, type II or hypochondrogenesis 200610; Legg-Calve-Perthes disease 150600; Avascular necrosis of the femoral head 608805
Skeletal dysplasia v0.0 COL1A2 Zornitza Stark gene: COL1A2 was added
gene: COL1A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220; Ehlers-Danlos syndrome, type VIIB 130060; Ehlers-Danlos syndrome, cardiac valvular form 225320; Osteogenesis imperfecta, type II 166210
Skeletal dysplasia v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL1A1 were set to Ehlers-Danlos syndrome, type VIIA 130060; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type I 166200; Osteogenesis imperfecta, type IV 166220; Ehlers-Danlos syndrome, classic 130000; Caffey disease 114000; Osteogenesis imperfecta, type II 166210
Skeletal dysplasia v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2 614524?; Otospondylomegaepiphyseal dysplasia 215150; Fibrochondrogenesis 2 614524; Weissenbacher-Zweymuller syndrome 277610; Stickler syndrome, type III 184840
Skeletal dysplasia v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Eligibility statement prior genetic testing
Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were set to Stickler syndrome, type II 604841; Fibrochondrogenesis 1 228520; Marshall syndrome 154780
Skeletal dysplasia v0.0 COL10A1 Zornitza Stark gene: COL10A1 was added
gene: COL10A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL10A1 were set to Metaphyseal chondrodysplasia, Schmid type 156500
Skeletal dysplasia v0.0 COG1 Zornitza Stark gene: COG1 was added
gene: COG1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG1 were set to 19008299; 16537452
Phenotypes for gene: COG1 were set to Congenital disorder of glycosylation, type IIg 611209
Skeletal dysplasia v0.0 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CLCN7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600
Skeletal dysplasia v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Nephrolithiasis, type I 310468; Dent disease 300009; Hypophosphatemic rickets 300554; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
Skeletal dysplasia v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282
Skeletal dysplasia v0.0 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
Skeletal dysplasia v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776
Skeletal dysplasia v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Bardet-Biedl syndrome 14 615991; Leber congenital amaurosis 10; Joubert syndrome 5 610188; Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189
Skeletal dysplasia v0.0 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to 27208211
Phenotypes for gene: CEP120 were set to Joubert syndrome 213300; Short-rib thoracic dysplasia 13 with or without polydactyly 616300
Skeletal dysplasia v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4 613804
Skeletal dysplasia v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: CDKN1C were set to IMAGE syndrome 614732
Skeletal dysplasia v0.0 CDH3 Zornitza Stark gene: CDH3 was added
gene: CDH3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH3 were set to 22140374; 15805154
Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
Skeletal dysplasia v0.0 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC45 were set to 27374770
Phenotypes for gene: CDC45 were set to Craniosynostosis (Wilkie) (from Ana Beleza); Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)
Skeletal dysplasia v0.0 CCDC8 Zornitza Stark gene: CCDC8 was added
gene: CCDC8 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC8 were set to 21737058
Phenotypes for gene: CCDC8 were set to 3-M syndrome 3, 614205
Skeletal dysplasia v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D2A were set to 24706459; 18513680; 23351400
Phenotypes for gene: CC2D2A were set to Meckel syndrome 6 612284
Skeletal dysplasia v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, with Bartter syndrome 601198; Hypocalcemia, autosomal dominant 601198; Hyperparathyroidism, neonatal 239200; Hypocalciuric hypercalcemia, type I 145980
Skeletal dysplasia v0.0 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to multiple epiphyseal dysplasia type 7, 617719.; Desbuquois dysplasia 1 251450
Skeletal dysplasia v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
Skeletal dysplasia v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV 615948
Skeletal dysplasia v0.0 C21orf2 Zornitza Stark gene: C21orf2 was added
gene: C21orf2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert list,Expert Review Green
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C21orf2 were set to 26974433
Phenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia 602271; Spondylometaphyseal dysplasia, axial 602271
Skeletal dysplasia v0.0 BMPR1B Zornitza Stark gene: BMPR1B was added
gene: BMPR1B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: BMPR1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BMPR1B were set to Brachydactyly, type A1, D 616849; Acromesomelic dysplasia, Demirhan type 609441; Brachydactyly, type A2 112600
Skeletal dysplasia v0.0 BMPER Zornitza Stark gene: BMPER was added
gene: BMPER was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPER were set to Diaphanospondylodysostosis 608022
Skeletal dysplasia v0.0 BMP2 Zornitza Stark gene: BMP2 was added
gene: BMP2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP2 were set to 19327734; 29198724; 21357617
Phenotypes for gene: BMP2 were set to {HFE hemochromatosis, modifier of} 235200; short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.; Brachydactyly, type A2 112600
Skeletal dysplasia v0.0 BMP1 Zornitza Stark gene: BMP1 was added
gene: BMP1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMP1 were set to Osteogenesis imperfecta, type XIII, 614856
Skeletal dysplasia v0.0 BHLHA9 Zornitza Stark gene: BHLHA9 was added
gene: BHLHA9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: BHLHA9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BHLHA9 were set to Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432
Skeletal dysplasia v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Polydactyly; Bardet Biedl syndrome 9, 615986
Skeletal dysplasia v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984; Polydactyly
Skeletal dysplasia v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Polydactyly; Bardet Biedl syndrome 5, 615983
Skeletal dysplasia v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982; Polydactyly
Skeletal dysplasia v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Polydactyly; Bardet-Biedl syndrome 2, 615981
Skeletal dysplasia v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet Biedl syndrome 12, 615989; Polydactyly
Skeletal dysplasia v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet Biedl syndrome 10, 615987; Polydactyly
Skeletal dysplasia v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS1 were set to 11567139; 12118255; 12677556; 12567324; 12524598; 23143442
Phenotypes for gene: BBS1 were set to Polydactyly; Bardet-Biedl syndrome 1 209900
Skeletal dysplasia v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070
Skeletal dysplasia v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Skeletal dysplasia. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 23889335; 16909395
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Skeletal dysplasia v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Larsen alike phenotype (skd incl); Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
Skeletal dysplasia v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Skeletal dysplasia v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, 300489; Menkes disease 309400; Occipital horn syndrome 304150
Skeletal dysplasia v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA 219200; Cutis laxa, autosomal recessive, type IIA 219200
Skeletal dysplasia v0.0 ASXL2 Zornitza Stark gene: ASXL2 was added
gene: ASXL2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ASXL2 were set to 27693232
Phenotypes for gene: ASXL2 were set to Shashi-Pena syndrome 617190; Shashi-Pena syndrome 617190
Skeletal dysplasia v0.0 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome 605039
Skeletal dysplasia v0.0 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED; X-linked recessive chondrodysplasia punctata; Chondrodysplasia punctata, X-linked recessive, 302950; CDPXL
Skeletal dysplasia v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Skeletal dysplasia v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6 were set to 19858128; 15314642; 15258860
Phenotypes for gene: ARL6 were set to Polydactyly; Bardet-Biedl syndrome 3 600151
Skeletal dysplasia v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP31 were set to 21565291; 29924900
Phenotypes for gene: ARHGAP31 were set to Adams-Oliver syndrome 1 100300
Skeletal dysplasia v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome 228600
Skeletal dysplasia v0.0 ANO5 Zornitza Stark gene: ANO5 was added
gene: ANO5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to Disproportionate Short Stature; Osteogenesis Imperfecta and Decreased Bone Density; Gnatodiaphyseal dysplasia; skeletal dysplasias
Skeletal dysplasia v0.0 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD11 were set to KBG syndrome 148050
Skeletal dysplasia v0.0 ANKH Zornitza Stark gene: ANKH was added
gene: ANKH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKH were set to Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000
Skeletal dysplasia v0.0 AMER1 Zornitza Stark gene: AMER1 was added
gene: AMER1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: AMER1 were set to Osteopathia striata with cranial sclerosis 300373; Osteopathia striata with cranial sclerosis 300373
Skeletal dysplasia v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALX4 were set to Frontonasal dysplasia 2 613451
Skeletal dysplasia v0.0 ALX3 Zornitza Stark gene: ALX3 was added
gene: ALX3 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX3 were set to Frontonasal dysplasia 1 136760; Frontonasal dysplasia 1 136760 (frontorhiny)
Skeletal dysplasia v0.0 ALX1 Zornitza Stark gene: ALX1 was added
gene: ALX1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX1 were set to 20451171; 27324866
Phenotypes for gene: ALX1 were set to Frontonasal dysplasia 3 613456; Frontonasal dysplasia type 3 613456
Skeletal dysplasia v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to hypophosphatasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias
Skeletal dysplasia v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 25966638
Phenotypes for gene: ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome 263210; Congenital disorder of glycosylation, type Il 608776; Gillessen-Kaesbach-Nishimura syndrome 263210
Skeletal dysplasia v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id 601110
Skeletal dysplasia v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig 607143
Skeletal dysplasia v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121; Rhizomelic chondrodysplasia punctata, type 3 600121
Skeletal dysplasia v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)
Skeletal dysplasia v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 231050
Skeletal dysplasia v0.0 ADAMTS17 Zornitza Stark gene: ADAMTS17 was added
gene: ADAMTS17 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS17 were set to 19836009; 31019231; 22486325; 24940034
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani syndrome type 4
Skeletal dysplasia v0.0 ADAMTS10 Zornitza Stark gene: ADAMTS10 was added
gene: ADAMTS10 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS10 were set to 19836009; 30060141; 15368195
Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, 277600
Skeletal dysplasia v0.0 ACVR1 Zornitza Stark gene: ACVR1 was added
gene: ACVR1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva 135100
Skeletal dysplasia v0.0 ACP5 Zornitza Stark gene: ACP5 was added
gene: ACP5 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation 607944
Skeletal dysplasia v0.0 ACAN Zornitza Stark gene: ACAN was added
gene: ACAN was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACAN were set to 24762113
Phenotypes for gene: ACAN were set to Spondyloepiphyseal dysplasia, Kimberley type 608361; Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 61283
Skeletal dysplasia v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome); Hypertrichotic osteochondrodysplasia 239850
Skeletal dysplasia v0.0 Zornitza Stark Added panel Skeletal dysplasia