Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Prepair 1000+ v1.552 GNB5 Lilian Downie Marked gene: GNB5 as ready
Prepair 1000+ v1.552 GNB5 Lilian Downie Gene: gnb5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.552 GNB5 Lilian Downie Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive to Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Prepair 1000+ v1.551 GNB5 Lilian Downie Publications for gene: GNB5 were set to
Prepair 1000+ v1.547 GNB5 Ee Ming Wong reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34436834; Phenotypes: Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173), Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.3 GNB5 Seb Lunke Added phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive for gene: GNB5
Prepair 1000+ v0.0 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive