Activity
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| Fetal anomalies v4.173 | ACSL4 | Achchuthan Shanmugasundram Phenotypes for gene: ACSL4 were changed from Mental retardation, X-linked 63 , OMIM:300387; ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63 to Mental retardation, X-linked 63 , OMIM:300387 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ACSL4 | Achchuthan Shanmugasundram commented on gene: ACSL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ACSL4 | Lyn Chitty reviewed gene: ACSL4: Rating: RED; Mode of pathogenicity: ; Publications: 12525535; Phenotypes: Mental retardation, X-linked 63 , OMIM:300387; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | ACSL4 |
Achchuthan Shanmugasundram Source NHS GMS was added to ACSL4. Source Expert Review Red was added to ACSL4. Added phenotypes Mental retardation, X-linked 63 , OMIM:300387 for gene: ACSL4 Publications for gene: ACSL4 were updated from to 12525535 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | ACSL4 | Rebecca Foulger reviewed gene: ACSL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ACSL4 | Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 63 for gene: ACSL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ACSL4 |
Rebecca Foulger gene: ACSL4 was added gene: ACSL4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber 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 |
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