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Mendeliome v1.2348 PHACTR4 Zornitza Stark Marked gene: PHACTR4 as ready
Mendeliome v1.2348 PHACTR4 Zornitza Stark Gene: phactr4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2348 PHACTR4 Zornitza Stark Phenotypes for gene: PHACTR4 were changed from Abnormality in embryonic development, MONDO:0019755 to Syndromic disease, MONDO:0002254, PHACTR4-related
Mendeliome v1.2347 PHACTR4 Zornitza Stark Classified gene: PHACTR4 as Amber List (moderate evidence)
Mendeliome v1.2347 PHACTR4 Zornitza Stark Gene: phactr4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2346 PHACTR4 Zornitza Stark reviewed gene: PHACTR4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease, MONDO:0002254, PHACTR4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2341 PHACTR4 Sangavi Sivagnanasundram gene: PHACTR4 was added
gene: PHACTR4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PHACTR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PHACTR4 were set to 40012205
Phenotypes for gene: PHACTR4 were set to Abnormality in embryonic development, MONDO:0019755
Review for gene: PHACTR4 was set to RED
Added comment: The association with human disease phenotype is not yet established - classified as Red.
Two affected individuals present with overlapping phenotypic features including some neurodevelopmental features. Both having de novo variants (p. Arg622Pro and p.Leu623Pro) located in the RPEL3 repeat domain.
p.Leu623Pro was present at 19% VAF in patient two.
Sources: Literature