| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Infertility and Recurrent Pregnancy Loss v2.38 | DND1 | Zornitza Stark Marked gene: DND1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.38 | DND1 | Zornitza Stark Gene: dnd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.9 | Sarah Milton Copied gene DND1 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.9 | DND1 |
Sarah Milton gene: DND1 was added gene: DND1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature Mode of inheritance for gene: DND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DND1 were set to 39999035; 36807972; 36246621; 30439356 Phenotypes for gene: DND1 were set to Infertility disorder, MONDO:0005047, DND1-related |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.75 | AXDND1 | Zornitza Stark Classified gene: AXDND1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.75 | AXDND1 | Zornitza Stark Gene: axdnd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.74 | AXDND1 | Zornitza Stark edited their review of gene: AXDND1: Added comment: PMID 38997255: Reports 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function or missense variants in AXDND1 presenting with non‑obstructive azoospermia/severe oligozoospermia. One family carries a homozygous stop‑gain (p.R313X) and two families carry heterozygous missense variants (p.Leu536Gln; p.Lys817Asn) with phenotypes ranging from Sertoli‑cell‑only syndrome to hypospermatogenesis. A mouse Axdnd1 knockout recapitulates male infertility, defective spermatogenesis and abnormal sperm tail ultrastructure, providing strong functional validation of gene loss‑of‑function as the disease mechanism.; Changed rating: GREEN; Changed publications: 40457935, 38997255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.31 | AXDND1 | Zornitza Stark Marked gene: AXDND1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.31 | AXDND1 | Zornitza Stark Gene: axdnd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.31 | AXDND1 |
Zornitza Stark gene: AXDND1 was added gene: AXDND1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: AXDND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AXDND1 were set to 40457935 Phenotypes for gene: AXDND1 were set to Spermatogenic failure, MONDO:0004983, AXDND1-related Review for gene: AXDND1 was set to RED Added comment: Single family reported with bi-allelic LoF variant. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||