Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Intellectual disability syndromic and non-syndromic v1.75 PHACTR4 Zornitza Stark Marked gene: PHACTR4 as ready
Intellectual disability syndromic and non-syndromic v1.75 PHACTR4 Zornitza Stark Gene: phactr4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.75 PHACTR4 Zornitza Stark Classified gene: PHACTR4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.75 PHACTR4 Zornitza Stark Gene: phactr4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.74 PHACTR4 Zornitza Stark gene: PHACTR4 was added
gene: PHACTR4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PHACTR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR4 were set to 40012205
Phenotypes for gene: PHACTR4 were set to Syndromic disease, MONDO:0002254, PHACTR4-related
Review for gene: PHACTR4 was set to AMBER
Added comment: Two individuals with syndromic disease and de novo missense variants reported together with aggregate information on additional individuals.
Sources: Literature