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| DDG2P v3.12 | AFG3L2 | Achchuthan Shanmugasundram reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: ; Publications: 28449981, 22022284, 31111429, 32248051, 32237276; Phenotypes: AFG3L2-related ataxia and seizures, OMIM:614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AFG3L2 |
Achchuthan Shanmugasundram Source Expert Review Red was added to AFG3L2. Mode of inheritance for gene AFG3L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AFG3L2 were updated from 22964162 to 28449981; 22022284; 31111429; 32248051; 22964162; 32237276 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| DDG2P v0.95 | AFG3L2 | Rebecca Foulger commented on gene: AFG3L2: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for SPINOCEREBELLAR ATAXIA 28; ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AFG3L2 | Rebecca Foulger reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AFG3L2 |
Rebecca Foulger Added phenotypes ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE 614487 for gene: AFG3L2 Publications for gene AFG3L2 were changed from 20208537 to 22964162 |
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| DDG2P v0.1 | AFG3L2 |
Rebecca Foulger gene: AFG3L2 was added gene: AFG3L2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: AFG3L2 were set to 20208537 Phenotypes for gene: AFG3L2 were set to SPINOCEREBELLAR ATAXIA 28 610246 |
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