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Inborn errors of metabolism

Gene: PGAP3

Green List (high evidence)

PGAP3 (post-GPI attachment to proteins 3)
EnsemblGeneIds (GRCh38): ENSG00000161395
EnsemblGeneIds (GRCh37): ENSG00000161395
OMIM: 611801, Gene2Phenotype
PGAP3 is in 7 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 4
OMIM
611801
Clinvar variants
Variants in PGAP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Hyperphosphatasia with mental retardation syndrome 4 for gene: PGAP3

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PGAP3 was added gene: PGAP3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP3 were set to 24439110 Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4