Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Fetal anomalies v0.3771 TRPS1 Zornitza Stark Marked gene: TRPS1 as ready
Fetal anomalies v0.3771 TRPS1 Zornitza Stark Gene: trps1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3771 TRPS1 Zornitza Stark Phenotypes for gene: TRPS1 were changed from TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 to Trichorhinophalangeal syndrome, type I, OMIM #190350; Trichorhinophalangeal syndrome, type III, OMIM #190351
Fetal anomalies v0.3770 TRPS1 Zornitza Stark Publications for gene: TRPS1 were set to
Fetal anomalies v0.3769 TRPS1 Zornitza Stark Mode of inheritance for gene: TRPS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3722 TRPS1 Chirag Patel Classified gene: TRPS1 as Red List (low evidence)
Fetal anomalies v0.3722 TRPS1 Chirag Patel Gene: trps1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3721 TRPS1 Chirag Patel reviewed gene: TRPS1: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 10615131, 11950061, 11112658; Phenotypes: Trichorhinophalangeal syndrome, type I, OMIM #190350, Trichorhinophalangeal syndrome, type III, OMIM #190351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.0 TRPS1 Zornitza Stark gene: TRPS1 was added
gene: TRPS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPS1 were set to TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1