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Intellectual disability - microarray and sequencing v3.0 | CA5A | Zornitza Stark reviewed gene: CA5A: Rating: RED; Mode of pathogenicity: None; Publications: 26913920; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1069 | CA5A | Rebecca Foulger commented on gene: CA5A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1069 | CA5A | Rebecca Foulger Mode of inheritance for gene: CA5A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1068 | CA5A | Rebecca Foulger Phenotypes for gene: CA5A were changed from to Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1067 | CA5A | Rebecca Foulger Publications for gene: CA5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1046 | CA5A | Konstantinos Varvagiannis reviewed gene: CA5A: Rating: RED; Mode of pathogenicity: None; Publications: 26913920, 25834911, 24530203; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency (MIM 615751); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.468 | CA5A |
Louise Daugherty gene: CA5A was added gene: CA5A was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: CA5A was set to |