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| Disorders of sex development v2.20 | PBX1 | Ivone Leong Phenotypes for gene: PBX1 were changed from 46, XY gonadal dysgenesis to 46, XY gonadal dysgenesis; 46,XY partial gonadal dysgenesis, MONDO:0016674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.19 | PBX1 | Ivone Leong Tag watchlist tag was added to gene: PBX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.19 | PBX1 | Ivone Leong Classified gene: PBX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.19 | PBX1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. As there is currently not enough evidence to support a gene-disease association, this gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.19 | PBX1 | Ivone Leong Gene: pbx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.4 | PBX1 |
Zornitza Stark gene: PBX1 was added gene: PBX1 was added to Disorders of sex development. Sources: Literature Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PBX1 were set to 31302614; 31058389 Phenotypes for gene: PBX1 were set to 46, XY gonadal dysgenesis Review for gene: PBX1 was set to AMBER Added comment: Two individuals reported with mono allelic variants in this gene and 46,XY gonadal dysgenesis. Sources: Literature |
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