Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Infertility and Recurrent Pregnancy Loss v0.85 DNAAF1 Zornitza Stark Marked gene: DNAAF1 as ready
Infertility and Recurrent Pregnancy Loss v0.85 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.85 DNAAF1 Zornitza Stark Classified gene: DNAAF1 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v0.85 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.82 DNAAF1 Jasmine Chew gene: DNAAF1 was added
gene: DNAAF1 was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAAF1 were set to 19944400; 19944405; 33174003
Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia 13, #MIM 613193
Review for gene: DNAAF1 was set to GREEN
Added comment: Literature in OMIM: PMID:19944400;19944405

New paper:
PMID: 33174003- biallelic variants in two patients (P1- com het p.Met1Ile,.124+1G>C, and p.Glu126Lysfs*35 and P2- hom p.Lys315*) with primary ciliary dyskinesia and infertility.

Documented in FeRGI database- limited evidence for reduced fertility.
Sources: Literature