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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 v0.114 | 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 v0.51 | 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 v0.10 | 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 v0.0 | 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 | 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 | 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 | 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 | 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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