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| Primary ovarian insufficiency v1.61 | POLR3H | Ivone Leong Tag watchlist tag was added to gene: POLR3H. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.61 | POLR3H | Ivone Leong Classified gene: POLR3H as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.61 | POLR3H | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in Gene2Phenotype and it is not present in OMIM. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.61 | POLR3H | Ivone Leong Gene: polr3h has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.60 | POLR3H |
Zornitza Stark gene: POLR3H was added gene: POLR3H was added to Primary ovarian insufficiency. Sources: Expert Review Mode of inheritance for gene: POLR3H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3H were set to 34794894; 30830215 Phenotypes for gene: POLR3H were set to Primary ovarian insufficiency Review for gene: POLR3H was set to AMBER Added comment: A homozygous missense variant (p.Asp50Gly) was identified homozygous in 2 unrelated families. A mull mouse model was embryonic lethal, but a mouse model homozygous for the missense were viable and showed delayed pubertal development, characterised by late first oestrus or preputial separation. Sources: Expert Review |
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