| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v0.8838 | PGRMC1 | Bryony Thompson Phenotypes for gene: PGRMC1 were changed from Premature ovarian failure to Premature ovarian failure; Isolated paediatric cataract | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8837 | PGRMC1 | Bryony Thompson Tag SV/CNV tag was added to gene: PGRMC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8837 | PGRMC1 | Bryony Thompson Publications for gene: PGRMC1 were set to 25246111; 18782852 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8836 | PGRMC1 | Bryony Thompson Classified gene: PGRMC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8836 | PGRMC1 | Bryony Thompson Gene: pgrmc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8835 | PGRMC1 | Bryony Thompson reviewed gene: PGRMC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33867527, 23783460; Phenotypes: Isolated paediatric cataract; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5638 | PGRMC1 | Zornitza Stark Marked gene: PGRMC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5638 | PGRMC1 | Zornitza Stark Gene: pgrmc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5638 | PGRMC1 |
Zornitza Stark gene: PGRMC1 was added gene: PGRMC1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: PGRMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PGRMC1 were set to 25246111; 18782852 Phenotypes for gene: PGRMC1 were set to Premature ovarian failure Review for gene: PGRMC1 was set to RED Added comment: One family with translocation reported and two affected individuals. Another individual identified as part of a cohort with a missense variant (H165R), but the variant is present in >200 hets in gnomad. Subsequent cohort study did not find an association. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||