Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Mendeliome v0.1983 POLR3C Zornitza Stark Marked gene: POLR3C as ready
Mendeliome v0.1983 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1983 POLR3C Zornitza Stark Classified gene: POLR3C as Amber List (moderate evidence)
Mendeliome v0.1983 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1982 POLR3C Zornitza Stark gene: POLR3C was added
gene: POLR3C was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3C were set to 28783042
Phenotypes for gene: POLR3C were set to Severe VZV infection
Review for gene: POLR3C was set to AMBER
Added comment: One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants.
Sources: Expert list