Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v0.3457 DARS2 Zornitza Stark Marked gene: DARS2 as ready
Fetal anomalies v0.3457 DARS2 Zornitza Stark Gene: dars2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3457 DARS2 Zornitza Stark Phenotypes for gene: DARS2 were changed from LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105
Fetal anomalies v0.3456 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Fetal anomalies v0.3400 DARS2 Belinda Chong edited their review of gene: DARS2: Set current diagnostic: yes
Fetal anomalies v0.3400 DARS2 Belinda Chong reviewed gene: DARS2: Rating: RED; Mode of pathogenicity: None; Publications: 17384640, 15002045, 16788019, 30352563; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 DARS2 Zornitza Stark gene: DARS2 was added
gene: DARS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION