Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Possible mitochondrial disorder - nuclear genes v1.2 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Possible mitochondrial disorder - nuclear genes v1.2 DARS Louise Daugherty commented on gene: DARS
Possible mitochondrial disorder - nuclear genes v0.5 DARS Ivone Leong reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DARS2 Ivone Leong reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.4 DARS Ivone Leong gene: DARS was added
gene: DARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Possible mitochondrial disorder - nuclear genes v0.2 DARS2 Ivone Leong gene: DARS2 was added
gene: DARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105