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Infertility and Recurrent Pregnancy Loss v0.79 SEPT4 Zornitza Stark Marked gene: SEPT4 as ready
Infertility and Recurrent Pregnancy Loss v0.79 SEPT4 Zornitza Stark Gene: sept4 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.79 SEPT4 Zornitza Stark Classified gene: SEPT4 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v0.79 SEPT4 Zornitza Stark Gene: sept4 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.78 SEPT4 Zornitza Stark gene: SEPT4 was added
gene: SEPT4 was added to Infertility and Pregnancy Loss. Sources: Expert Review
Mode of inheritance for gene: SEPT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPT4 were set to 36135717; 15737931; 15737930
Phenotypes for gene: SEPT4 were set to Spermatogenic failure 99, MIM# 621194
Review for gene: SEPT4 was set to GREEN
Added comment: Two unrelated cases with primary male infertility (asthenoteratozoospermia) from consanguineous Chinsese families with 2 difference homozygous stopgain variants (Patient 1: c.721A>T, p.R241* and Patient 2: c.205C>T, p.R69*). Multiple supporting mouse models where the male mice are sterile.
Sources: Expert Review