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Date Panel Item Activity
7 actions
Intellectual disability v3.421 NR5A1 Arina Puzriakova Source Expert Review Red was added to NR5A1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.253 NR5A1 Arina Puzriakova commented on gene: NR5A1
Intellectual disability v3.3 NR5A1 Zornitza Stark reviewed gene: NR5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 46XY sex reversal 3, 612965, Premature ovarian failure 7, 612964, Adrenocortical insufficiency, Spermatogenic failure 8, 613957; Mode of inheritance: None
Intellectual disability NR5A1 BRIDGE consortium edited their review of NR5A1
Intellectual disability NR5A1 Louise Daugherty classified NR5A1 as amber
Intellectual disability NR5A1 Louise Daugherty commented on NR5A1
Intellectual disability NR5A1 BRIDGE consortium reviewed NR5A1