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  2. Miscellaneous Metabolic Disorders
  3. PPA1
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Miscellaneous Metabolic Disorders

Gene: PPA1

Red List (low evidence)
PPA1 (pyrophosphatase (inorganic) 1)
EnsemblGeneIds (GRCh38): ENSG00000180817
EnsemblGeneIds (GRCh37): ENSG00000180817
OMIM: 179030, Gene2Phenotype
PPA1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Homozygous missense variant detected in two siblings with increased galactose and galactose-related metabolites ascertained in neonatal screening. Some supportive functional data.
Sources: Literature
Created: 30 Jan 2025, 11:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosaemia, MONDO:0018116

Publications

Created: 30 Jan 2025, 11:49 p.m.

Panel version: 1.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Galactosaemia, MONDO:0018116
OMIM
179030
Clinvar variants
Variants in PPA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2025, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppa1 has been classified as Red List (Low Evidence).

30 Jan 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPA1 was added gene: PPA1 was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: PPA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA1 were set to 37999237 Phenotypes for gene: PPA1 were set to Galactosaemia, MONDO:0018116 Review for gene: PPA1 was set to RED