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DDG2P v3.12 | RAB11A | Achchuthan Shanmugasundram reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | RAB11A |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAB11A. Mode of pathogenicity for gene RAB11A was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v3.1 | RAB11A | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RAB11A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.78 | RAB11A | Eleanor Williams commented on gene: RAB11A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.50 | RAB11A | Dmitrijs Rots reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33875846, 26902202; Phenotypes: microcephaly, brain anomalies, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | RAB11A | Rebecca Foulger reviewed gene: RAB11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | RAB11A |
Rebecca Foulger gene: RAB11A was added gene: RAB11A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB11A were set to 29100083 Phenotypes for gene: RAB11A were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: RAB11A was set to Other - please provide details in the comments |