Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Possible mitochondrial disorder - nuclear genes v0.5 ACADSB Ivone Leong reviewed gene: ACADSB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 2-methylbutyrylglycinuria, 610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACADS Ivone Leong reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.4 ACADSB Ivone Leong gene: ACADSB was added
gene: ACADSB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria, 610006
Possible mitochondrial disorder - nuclear genes v0.4 ACADS Ivone Leong gene: ACADS was added
gene: ACADS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470