Hydrops fetalis
Gene: PIGA

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cannot find specific reports of hydrops though it is listed as a feature in OMIM.
Sources: Expert list
Created: 30 Dec 2019, 2:27 a.m.

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

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868

Created: 30 Dec 2019, 2:27 a.m.

Panel version: 0.30

Details

Mode of Inheritance

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

Sources

Expert Review Red
Expert list

Phenotypes

Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868

OMIM

311770

Clinvar variants

Variants in PIGA

Penetrance

None

Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Dec 2019, Gel status: 1

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