Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ACBD6 | Achchuthan Shanmugasundram edited their review of gene: ACBD6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACBD6-related intellectual developmental disorder are strong, biallelic_autosomal and loss of function (PMIDs: 21937992, 26748517, 36457943, 37951597). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00748.; Changed rating: GREEN; Changed publications to: 26748517, 21937992, 36457943, 37951597; Changed phenotypes to: ACBD6-related intellectual developmental disorder, MONDO:0968976, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:620785.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | ACBD6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACBD6. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACBD6 | Achchuthan Shanmugasundram reviewed gene: ACBD6: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACBD6 | Rebecca Foulger reviewed gene: ACBD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACBD6 |
Rebecca Foulger gene: ACBD6 was added gene: ACBD6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD6 were set to 21937992 Phenotypes for gene: ACBD6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||