Activity
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2 actions
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| DDG2P v6.17 | ABCA2 | Achchuthan Shanmugasundram reviewed gene: ABCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31047799, 31231135, 29302074, 30237576, 38228874; Phenotypes: ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930, OMIM:618808.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | ABCA2 |
Achchuthan Shanmugasundram gene: ABCA2 was added gene: ABCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA2 were set to 30237576; 29302074; 31231135; 38228874; 31047799 Phenotypes for gene: ABCA2 were set to OMIM:618808.0; MONDO:0032930; ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia |
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