| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3019 | TULP2 | Bryony Thompson Marked gene: TULP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3019 | TULP2 | Bryony Thompson Gene: tulp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3019 | TULP2 | Bryony Thompson Classified gene: TULP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3019 | TULP2 | Bryony Thompson Gene: tulp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3018 | TULP2 |
Bryony Thompson gene: TULP2 was added gene: TULP2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TULP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TULP2 were set to 35619658: 33763418; 40613306 Phenotypes for gene: TULP2 were set to male infertility MONDO:0005372 Review for gene: TULP2 was set to AMBER Added comment: Tulp2 -/- mouse model is sterile. Only one individual with asthenoteratozoospermia reported with a homozygous missense variant (c.832C>T p.R278W) that present in at AF of ~1% in the East Asian population in gnomAD v4.1 (455/44,880 alleles, 4 homozygotes). This AF doesn’t rule it out as a possible cause of male sterility. Sources: Literature |
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