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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.382 | HSD17B4 | Chirag Patel reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 20673864, 28830375; Phenotypes: Perrault syndrome 1, #MIM 233400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.382 | HSD17B4 |
Chirag Patel Source Royal Melbourne Hospital was removed from HSD17B4. Source Expert List was added to HSD17B4. Phenotypes for gene: HSD17B4 were changed from Perrault syndrome 1 233400 to Perrault syndrome 1, #MIM 233400 Publications for gene HSD17B4 were changed from 20673864, 28830375 to 20673864, 28830375 |
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 | HSD17B4 |
Bryony Thompson gene: HSD17B4 was added gene: HSD17B4 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD17B4 were set to Perrault syndrome 1 233400 |
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