Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Diamond Blackfan anaemia v0.78 | RPL35 | Zornitza Stark Marked gene: RPL35 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.78 | RPL35 | Zornitza Stark Gene: rpl35 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.78 | RPL35 |
Zornitza Stark gene: RPL35 was added gene: RPL35 was added to Diamond Blackfan anaemia. Sources: Expert list Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL35 were set to 28280134 Phenotypes for gene: RPL35 were set to Diamond-Blackfan anemia 19, MIM# 618312 Review for gene: RPL35 was set to RED Added comment: Single family reported. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.53 | RPL35A | Zornitza Stark Marked gene: RPL35A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.53 | RPL35A | Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.53 | RPL35A | Zornitza Stark Tag SV/CNV tag was added to gene: RPL35A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.53 | RPL35A | Zornitza Stark Phenotypes for gene: RPL35A were changed from to Diamond-Blackfan anemia 5, MIM# 612528 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.52 | RPL35A | Zornitza Stark Publications for gene: RPL35A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.51 | RPL35A | Zornitza Stark Mode of inheritance for gene: RPL35A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.50 | RPL35A | Zornitza Stark reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18535205, 32241839; Phenotypes: Diamond-Blackfan anemia 5, MIM# 612528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.0 | RPL35A |
Zornitza Stark gene: RPL35A was added gene: RPL35A was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPL35A was set to Unknown |