Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mendeliome v1.554 | RPS15 | Zornitza Stark Marked gene: RPS15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.554 | RPS15 | Zornitza Stark Gene: rps15 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.554 | RPS15 | Zornitza Stark Phenotypes for gene: RPS15 were changed from Diamond-Blackfan anaemia to Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.553 | RPS15 |
Zornitza Stark gene: RPS15 was added gene: RPS15 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS15 were set to 19061985 Phenotypes for gene: RPS15 were set to Diamond-Blackfan anaemia Review for gene: RPS15 was set to RED Added comment: Single individual reported in 2008, no reports since. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.6605 | RPS15A | Zornitza Stark Marked gene: RPS15A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.6605 | RPS15A | Zornitza Stark Gene: rps15a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.6605 | RPS15A |
Zornitza Stark gene: RPS15A was added gene: RPS15A was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS15A were set to 27909223 Phenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, MIM# 618313 Review for gene: RPS15A was set to RED Added comment: Single family reported. Sources: Expert list |