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| Skeletal dysplasia v1.153 | PITX1 |
Eleanor Williams Added phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800; Liebenberg syndrome 186550 for gene: PITX1 Publications for gene PITX1 were changed from 23587911; 23022097 to 30459804; 23022097; 23587911 |
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| Skeletal dysplasia v1.147 | PITX1 | Tracy Lester reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23587911, 23022097, 30459804; Phenotypes: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800, Liebenberg syndrome 186550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | PITX1 | Eleanor Williams reviewed gene: PITX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | PITX1 |
Eleanor Williams Source NHS GMS was added to PITX1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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