Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 FRMPD4 Achchuthan Shanmugasundram reviewed gene: FRMPD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25644381; Phenotypes: Intellectual Disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.11 FRMPD4 Achchuthan Shanmugasundram Source Expert Review Green was added to FRMPD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v0.2 FRMPD4 Rebecca Foulger reviewed gene: FRMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 FRMPD4 Rebecca Foulger gene: FRMPD4 was added
gene: FRMPD4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FRMPD4 were set to 25644381
Phenotypes for gene: FRMPD4 were set to Intellectual Disability