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| DDG2P v3.12 | ACSL4 | Achchuthan Shanmugasundram reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12525535, 11889465; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 63, OMIM:300387; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACSL4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACSL4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | ACSL4 | Rebecca Foulger reviewed gene: ACSL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACSL4 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 63 300387 for gene: ACSL4 Publications for gene ACSL4 were changed from to 12525535; 11889465 |
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| DDG2P v0.1 | ACSL4 |
Rebecca Foulger gene: ACSL4 was added gene: ACSL4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194 |
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