Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Prepair 1000+ v1.1505 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Prepair 1000+ v1.1505 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1505 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3) to Myoclonic epilepsy of Lafora 2, MIM# 620681
Prepair 1000+ v1.1504 NHLRC1 Zornitza Stark Publications for gene: NHLRC1 were set to
Prepair 1000+ v1.1459 NHLRC1 Lauren Thomas reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597, 18256682; Phenotypes: Myoclonic epilepsy of Lafora 2, MIM# 620681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 NHLRC1 Zornitza Stark gene: NHLRC1 was added
gene: NHLRC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)