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| 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 v0.277 | 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 v0.243 | 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 v0.209 | 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 v0.150 | 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 v0.137 | IFITM5 | Seb Lunke Phenotypes for gene: IFITM5 were changed from Osteogenesis imperfecta, type V 610967 to Osteogenesis imperfecta, type V MIM#610967 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.135 | 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 v0.89 | 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 v0.76 | 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 v0.4 | 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 v0.0 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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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