Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Prepair 1000+ v1.2003 MTHFD1 Zornitza Stark Marked gene: MTHFD1 as ready
Prepair 1000+ v1.2003 MTHFD1 Zornitza Stark Gene: mthfd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2003 MTHFD1 Zornitza Stark Phenotypes for gene: MTHFD1 were changed from Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive to Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive
Prepair 1000+ v1.2002 MTHFD1 Zornitza Stark Publications for gene: MTHFD1 were set to
Prepair 1000+ v1.1868 MTHFD1 Andrew Coventry reviewed gene: MTHFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32414565, 19033438; Phenotypes: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MIM#617780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 MTHFD1 Zornitza Stark gene: MTHFD1 was added
gene: MTHFD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive