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| Hand and foot malformations v0.0 | SOST |
Bryony Thompson gene: SOST was added gene: SOST was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SOST were set to Van Buchem disease 239100; Sclerosteosis 1 269500; Craniodiaphyseal dysplasia, autosomal dominant 122860 |
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| Hand and foot malformations v0.0 | SF3B4 |
Bryony Thompson gene: SF3B4 was added gene: SF3B4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list 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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| Hand and foot malformations v0.0 | PRKAR1A |
Bryony Thompson gene: PRKAR1A was added gene: PRKAR1A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: PRKAR1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRKAR1A were set to Myxoma, intracardiac 255960; Acrodysostosis 1, with or without hormone resistance 101800; Pigmented nodular adrenocortical disease, primary, 1 610489 |
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| Hand and foot malformations v0.0 | POLR1A |
Bryony Thompson gene: POLR1A was added gene: POLR1A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type 616462 |
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| Hand and foot malformations v0.0 | PDE4D |
Bryony Thompson gene: PDE4D was added gene: PDE4D was added to Hand and foot malformation. Sources: Expert Review Green,Expert list 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 |
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| Hand and foot malformations v0.0 | DHODH |
Bryony Thompson gene: DHODH was added gene: DHODH was added to Hand and foot malformation. Sources: Expert Review Green,Expert list 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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