Ataxia - paediatric
Gene: PIGSEnsemblGeneIds (GRCh38): ENSG00000087111
EnsemblGeneIds (GRCh37): ENSG00000087111
OMIM: 610271, Gene2Phenotype
PIGS is in 5 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
DEE95 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. Mutiple patients reported with biallelic variants. Some functional evidence with decreased levels of GPI-anchored proteins compared to controls.
Sources: LiteratureCreated: 26 Jan 2022, 11:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 95, OMIM # 618143
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE
Sources: Expert ReviewCreated: 26 Jan 2020, 8:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 18 618143
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Expert Review Green
- Expert Review
- Phenotypes
-
- Developmental and epileptic encephalopathy 95, OMIM # 618143
- OMIM
- 610271
- Clinvar variants
- Variants in PIGS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pigs has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PIGS were set to PubMed: 30269814, 33410539
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pigs has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: PIGS was added gene: PIGS was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to PubMed: 30269814, 33410539 Phenotypes for gene: PIGS were set to Developmental and epileptic encephalopathy 95, OMIM # 618143 Review for gene: PIGS was set to GREEN