1. Panels
  2. Prepair 1000+
  3. PIGA
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: PIGA

Green List (high evidence)
PIGA (phosphatidylinositol glycan anchor biosynthesis class A)
EnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 15 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy. The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability.
Created: 30 Jul 2024, 6:48 a.m. | Last Modified: 30 Jul 2024, 6:48 a.m.
Panel Version: 1.65

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868; Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072

Created: 30 Jul 2024, 6:48 a.m.
Last Modified: 30 Jul 2024, 6:48 a.m.
Panel version: 1.65

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868
  • Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072
OMIM
311770
Clinvar variants
Variants in PIGA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: PIGA were set to

13 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

13 Aug 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3) to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868; Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGA was added gene: PIGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)