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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 |
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