Activity

Filter

Cancel
Date Panel Item Activity
18 actions
BabyScreen+ newborn screening v1.114 RPL35 Tommy Li Added phenotypes Diamond-Blackfan anaemia 19 , MIM# 618312 for gene: RPL35
BabyScreen+ newborn screening v1.114 RPL35A Tommy Li Added phenotypes Diamond-Blackfan anaemia 5, MIM# 612528 for gene: RPL35A
Publications for gene RPL35A were updated from 18535205; 32241839 to 32241839; 18535205
BabyScreen+ newborn screening v1.93 RPL35A Zornitza Stark Marked gene: RPL35A as ready
BabyScreen+ newborn screening v1.93 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v1.93 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anaemia 5, MIM# 612528; Diamond-Blackfan anemia to Diamond-Blackfan anaemia 5, MIM# 612528
BabyScreen+ newborn screening v1.92 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
BabyScreen+ newborn screening v1.91 RPL35A Zornitza Stark Classified gene: RPL35A as Green List (high evidence)
BabyScreen+ newborn screening v1.91 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v1.90 RPL35A Zornitza Stark Tag treatable tag was added to gene: RPL35A.
Tag haematological tag was added to gene: RPL35A.
BabyScreen+ newborn screening v1.90 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
BabyScreen+ newborn screening v0.1427 RPL35 Zornitza Stark Marked gene: RPL35 as ready
BabyScreen+ newborn screening v0.1427 RPL35 Zornitza Stark Gene: rpl35 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1427 RPL35 Zornitza Stark Classified gene: RPL35 as Red List (low evidence)
BabyScreen+ newborn screening v0.1427 RPL35 Zornitza Stark Gene: rpl35 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1426 RPL35 Zornitza Stark reviewed gene: RPL35: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 19, MIM# 618312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.0 RPL35A Zornitza Stark Source Expert Review Red was added to RPL35A.
Source BabySeq Category C gene was added to RPL35A.
Added phenotypes Diamond-Blackfan anemia for gene: RPL35A
Rating Changed from Green List (high evidence) to Red List (low evidence)
BabyScreen+ newborn screening v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anaemia 5, MIM# 612528
BabyScreen+ newborn screening v0.0 RPL35 Zornitza Stark gene: RPL35 was added
gene: RPL35 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL35 were set to Diamond-Blackfan anaemia 19 , MIM# 618312