Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Infertility and Recurrent Pregnancy Loss v0.211 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Infertility and Recurrent Pregnancy Loss v0.211 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v0.211 CHRNA1 Zornitza Stark Classified gene: CHRNA1 as Red List (low evidence)
Infertility and Recurrent Pregnancy Loss v0.211 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v0.210 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Infertility and Recurrent Pregnancy Loss v0.63 CHRNA1 Jasmine Chew changed review comment from: Spontaneous abortion reported before.

New papers:
i) PMID: 23037934- A novel homozygous p.R254C variant in a family with recurrent fetal loss due to NIHF.

ii) PMID: 18252226- Family CHRNA1-F1 had a family history of spontaneous abortions (IV-2 within the family) and two of the affected fetus (IV-1 stillbirth and IV-3 TOP) carried homozygous R234L.
Sources: Literature; to: Spontaneous abortion reported before.

Other papers:
i) PMID: 23037934- A novel homozygous p.R254C variant in a family with recurrent fetal loss due to NIHF.

ii) PMID: 18252226- Family CHRNA1-F1 had a family history of spontaneous abortions (IV-2 within the family) and two of the affected fetus (IV-1 stillbirth and IV-3 TOP) carried homozygous R234L.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v0.63 CHRNA1 Jasmine Chew gene: CHRNA1 was added
gene: CHRNA1 was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA1 were set to 23037934; 18252226
Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, MIM# 253290
Added comment: Spontaneous abortion reported before.

New papers:
i) PMID: 23037934- A novel homozygous p.R254C variant in a family with recurrent fetal loss due to NIHF.

ii) PMID: 18252226- Family CHRNA1-F1 had a family history of spontaneous abortions (IV-2 within the family) and two of the affected fetus (IV-1 stillbirth and IV-3 TOP) carried homozygous R234L.
Sources: Literature