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| Severe early-onset obesity v2.35 | INPP5E | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Joubert syndrome 1, OMIM:213300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.35 | INPP5E | Ivone Leong Phenotypes for gene: INPP5E were changed from Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156; Joubert syndrome 1, 213300 to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.22 | INPP5E | Ivone Leong reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: 19668215, 31173343; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.22 | INPP5E | Ismaa Farooqi reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.21 | INPP5E |
Ivone Leong Source Expert list was added to INPP5E. Source Expert Review Amber was added to INPP5E. Mode of inheritance for gene INPP5E was changed from to BIALLELIC, autosomal or pseudoautosomal Publications for gene INPP5E were changed from to 19668215; 31173343 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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