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| 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 v0.0 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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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