Congenital Disorders of Glycosylation
Gene: GMPPA
Variants in this gene induce a significant GDP-mannose overload, which may affect protein glycosylation.
PMID: 24035193;
- 13 affecteds from 9 families
- GDP-mannose levels were shown to be increased in 2 of the affecteds
PMID: 28574218;
- 2 sisters with achalasia, alacrima, hypohydrosis, apparent intellectual disability, seizures, microcephaly, esotropia, and craniofacial dysmorphism homozygous for c.853+1G>A.
- Loss of GMPPA protein leading to increased levels of GDP-mannose were demonstratedCreated: 22 Jul 2020, 12:11 a.m. | Last Modified: 22 Jul 2020, 12:11 a.m.
Panel Version: 0.96
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Publications
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)
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)
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)
Phenotypes for gene: GMPPA were changed from to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Publications for gene: GMPPA were set to
Gene: gmppa has been classified as Green List (High Evidence).
Mode of inheritance for gene: GMPPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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