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| Congenital Disorders of Glycosylation v1.46 | GMPPA | Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.46 | GMPPA | Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.46 | GMPPA | Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.3 | GMPPA | Zornitza Stark Phenotypes for gene: GMPPA were changed from to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.2 | GMPPA | Zornitza Stark Publications for gene: GMPPA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.101 | GMPPA | Seb Lunke Marked gene: GMPPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.101 | GMPPA | Seb Lunke Gene: gmppa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.101 | GMPPA | Seb Lunke Mode of inheritance for gene: GMPPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.96 | GMPPA | Ain Roesley reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24035193, 28574218; Phenotypes: Alacrima, achalasia, and mental retardation syndrome (MIM# 615510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.0 | GMPPA |
Zornitza Stark gene: GMPPA was added gene: GMPPA was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GMPPA was set to Unknown |
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