Genes in panel

Inborn errors of metabolism

Gene: GMPPA

Amber List (moderate evidence)

GMPPA (GDP-mannose pyrophosphorylase A)
EnsemblGeneIds (GRCh38): ENSG00000144591
EnsemblGeneIds (GRCh37): ENSG00000144591
OMIM: 615495, Gene2Phenotype
GMPPA is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in unrelated cases.
Created: 14 Jan 2021, 10:56 a.m. | Last Modified: 14 Jan 2021, 10:56 a.m.
Panel Version: 2.24
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 14 Jan 2021, 10:49 a.m. | Last Modified: 14 Jan 2021, 10:49 a.m.
Panel Version: 2.24

Phenotypes
Alacrima, achalasia, and mental retardation syndrome OMIM:615510

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Variants in this gene induce a significant GDP-mannose overload, which is postulated to 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 demonstrated
Sources: Expert list
Created: 22 Jul 2020, 8:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Tags
for-review
OMIM
615495
Clinvar variants
Variants in GMPPA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Aug 2021, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: GMPPA was added gene: GMPPA was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list for-review tags were added to gene: GMPPA. Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPA were set to 24035193; 28574218 Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)