Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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. |
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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. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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. |
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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. |
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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. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Skeletal dysplasia v0.0 | Zornitza Stark Added panel Skeletal dysplasia |