Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Prepair 1000+ v1.1508 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Prepair 1000+ v1.1508 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1508 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Prepair 1000+ v1.1507 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Prepair 1000+ v1.1459 NDUFV1 Lauren Thomas reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 NDUFV1 Seb Lunke Added phenotypes Mitochondrial complex I deficiency, 252010 (3) for gene: NDUFV1
Prepair 1000+ v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3)