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| Intellectual disability syndromic and non-syndromic v0.957 | PHKA2 | Zornitza Stark Marked gene: PHKA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.957 | PHKA2 | Zornitza Stark Gene: phka2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.957 | PHKA2 | Zornitza Stark Phenotypes for gene: PHKA2 were changed from to Glycogen storage disease, type IXa1, MIM#306000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.956 | PHKA2 | Zornitza Stark Mode of inheritance for gene: PHKA2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.955 | PHKA2 | Zornitza Stark Classified gene: PHKA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.955 | PHKA2 | Zornitza Stark Gene: phka2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.954 | PHKA2 | Zornitza Stark reviewed gene: PHKA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease, type IXa1, MIM#306000; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | PHKA2 |
Zornitza Stark gene: PHKA2 was added gene: PHKA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHKA2 was set to Unknown |
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