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Mendeliome v1.3872 TDRD6 Zornitza Stark Marked gene: TDRD6 as ready
Mendeliome v1.3872 TDRD6 Zornitza Stark Gene: tdrd6 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3872 TDRD6 Zornitza Stark Classified gene: TDRD6 as Amber List (moderate evidence)
Mendeliome v1.3872 TDRD6 Zornitza Stark Gene: tdrd6 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3871 TDRD6 Zornitza Stark gene: TDRD6 was added
gene: TDRD6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TDRD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDRD6 were set to 39764564; 39331689
Phenotypes for gene: TDRD6 were set to Infertility disorder, MONDO:0005047, TDRD6-related
Review for gene: TDRD6 was set to AMBER
Added comment: PMID 39331689 reports one family and PMID 39764564 reports two families, together three unrelated families with biallelic variants in TDRD6 causing severe oligo‑astheno‑teratozoospermia (OAT) and early embryonic arrest after ICSI. Supportive animal model. Note missense variant is relatively common on gnomAD.
Sources: Literature