Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: GMPPA

Green List (high evidence)

GMPPA (GDP-mannose pyrophosphorylase A)
EnsemblGeneIds (GRCh38): ENSG00000144591
EnsemblGeneIds (GRCh37): ENSG00000144591
OMIM: 615495, Gene2Phenotype
GMPPA is in 10 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Definitive by ClinGen on 06/09/2023 - https://search.clinicalgenome.org/CCID:004971

>10 reported individuals with reported inborn error of glycoslation had evidence of ID and some affected individuals presenting with some dysmorphic features. LoF is the mechanism of disease.
Created: 17 Sep 2024, 4:04 a.m. | Last Modified: 17 Sep 2024, 4:04 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
alacrima, achalasia, and intellectual disability syndrome MONDO:0014219

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • alacrima, achalasia, and intellectual disability syndrome MONDO:0014219
OMIM
615495
Clinvar variants
Variants in GMPPA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gmppa has been classified as Green List (High Evidence).

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GMPPA were changed from to alacrima, achalasia, and intellectual disability syndrome MONDO:0014219

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GMPPA were set to

14 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GMPPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GMPPA was added gene: GMPPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GMPPA was set to Unknown