Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Prepair 1000+ v1.408 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Prepair 1000+ v1.408 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Prepair 1000+ v1.408 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from GRACILE syndrome, 603358 (3) to GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type 1, MIM#124000
Prepair 1000+ v1.407 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Prepair 1000+ v1.390 BCS1L Lisa Norbart reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26563427, 17314340; Phenotypes: GRACILE syndrome, MIM#603358, Mitochondrial complex III deficiency, nuclear type 1, MIM#124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 BCS1L Seb Lunke Added phenotypes GRACILE syndrome, 603358 (3) for gene: BCS1L
Prepair 1000+ v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to GRACILE syndrome, 603358 (3)