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| Ciliopathies v0.113 | PMM2 | Zornitza Stark Marked gene: PMM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.113 | PMM2 | Zornitza Stark Gene: pmm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.113 | PMM2 | Zornitza Stark Classified gene: PMM2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.113 | PMM2 | Zornitza Stark Gene: pmm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.112 | PMM2 | Zornitza Stark reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.103 | PMM2 |
Crystle Lee gene: PMM2 was added gene: PMM2 was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 28108845 Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia (MIM#212065) Review for gene: PMM2 was set to AMBER Added comment: Encodes for phosphomannomutase 2 required for glycosylation. Not a ciliopathy gene however CDG has many overlapping features with ciliopathy. Left as Amber. PMID: 28108845: Review article. Well reported gene causing CDG. >700 patients reported PMID: 25497157; Many patients reported. Similar features as ciliopathies Sources: Expert Review |
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