Cerebral Palsy
Gene: PIGAEnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 15 panels
2 reviews
Clare van Eyk (University of Adelaide)
3 additional males with hemizygous pathogenic variants reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.Created: 26 Jun 2024, 1:52 a.m. | Last Modified: 26 Jun 2024, 1:52 a.m.
Panel Version: 1.315
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; Paroxysmal nocturnal hemoglobinuria, somatic MIM#300818
Publications
- PMID: 38693247
Luisa Weiss (University of Adelaide)
One case in a large CP cohort study with maternally inherited PIGA mutation predicted to be likely pathogenic.
In addition, Kato (PMID 24706016) reviewed 7 cases of boys with hemizygous PIGA mutations and encephalopathies, two of which had non-progressive hypotonic quadriplegia and one had spastic quadriplegia. They also showed intellectual disability and seizures. No CP diagnoses was given, but phenotypic overlap is present.
Sources: LiteratureCreated: 27 Jun 2023, 4:45 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; Neurodevelopmental disorder with epilepsy and hemochromatosis MIM#301072; Paroxysmal nocturnal hemoglobinuria, somatic MIM#300818
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868
- Neurodevelopmental disorder with epilepsy and haemochromatosis MIM#301072
- OMIM
- 311770
- Clinvar variants
- Variants in PIGA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Hydrops fetalis
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Genetic Epilepsy
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Callosome
- Cerebral Palsy
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PIGA were set to 33528536; 24706016
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: piga has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868; Neurodevelopmental disorder with epilepsy and hemochromatosis MIM#301072; Paroxysmal nocturnal hemoglobinuria, somatic MIM#300818 to Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868; Neurodevelopmental disorder with epilepsy and haemochromatosis MIM#301072
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: piga has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: PIGA was added gene: PIGA was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIGA were set to 33528536; 24706016 Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868; Neurodevelopmental disorder with epilepsy and hemochromatosis MIM#301072; Paroxysmal nocturnal hemoglobinuria, somatic MIM#300818 Review for gene: PIGA was set to GREEN