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| Mendeliome v1.3938 | ARMC2 | Zornitza Stark Marked gene: ARMC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3938 | ARMC2 | Zornitza Stark Gene: armc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3938 | ARMC2 | Zornitza Stark Classified gene: ARMC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3938 | ARMC2 | Zornitza Stark Gene: armc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3937 | ARMC2 |
Zornitza Stark gene: ARMC2 was added gene: ARMC2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ARMC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC2 were set to 40158138; 38492154; 35543806; 30686508 Phenotypes for gene: ARMC2 were set to Spermatogenic failure 38, MIM# 618433 Review for gene: ARMC2 was set to GREEN Added comment: ARMC2 encodes an 867‑amino‑acid armadillo‑repeat protein highly expressed in testis and implicated in assembly and stability of the central pair complex of motile cilia and sperm flagella. Ten unrelated families (ten patients) with biallelic loss‑of‑function or predicted loss‑of‑function ARMC2 variants have been reported with multiple morphological abnormalities of the sperm flagella (MMAF) causing severe asthenoteratozoospermia and male infertility; one of these families also presented with primary ciliary dyskinesia pulmonary manifestations. Supportive mouse model. Sources: Literature |
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