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| Mendeliome v1.3036 | POLR3H | Zornitza Stark Phenotypes for gene: POLR3H were changed from Primary ovarian insufficiency to Primary ovarian insufficiency MONDO:0005387, POLR3H-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3010 | POLR3H | Lucy Spencer reviewed gene: POLR3H: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ovarian insufficiency MONDO:0005387, POLR3H-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9900 | POLR3H | Bryony Thompson Marked gene: POLR3H as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9900 | POLR3H | Bryony Thompson Gene: polr3h has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9900 | POLR3H | Bryony Thompson Classified gene: POLR3H as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9900 | POLR3H | Bryony Thompson Gene: polr3h has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9899 | POLR3H |
Bryony Thompson gene: POLR3H was added gene: POLR3H was added to Mendeliome. Sources: Literature 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: Literature |
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