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| Monogenic diabetes v2.31 | PIK3R1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880;SHORT syndrome |
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| Monogenic diabetes v2.31 | PIK3R1 | Ivone Leong Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome to SHORT syndrome, OMIM:269880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v1.31 | PIK3R1 | Ivone Leong Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome; SHORT syndrome to Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.8 | PIK3R1 | Ivone Leong reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.7 | PIK3R1 | Ivone Leong Source NHS GMS was added to PIK3R1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.2 | PIK3R1 | Ellen McDonagh Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.2 | PIK3R1 |
Ellen McDonagh Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1 Publications for gene PIK3R1 were changed from 23810379; 23810382; 23810378 to 23810378 |
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| Monogenic diabetes v0.2 | PIK3R1 |
Ellen McDonagh gene: PIK3R1 was added gene: PIK3R1 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3R1 were set to 23810379; 23810382; 23810378 Phenotypes for gene: PIK3R1 were set to SHORT syndrome Mode of pathogenicity for gene: PIK3R1 was set to Other - please provide details in the comments |
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