Congenital Disorders of Glycosylation
Gene: PIGPEnsemblGeneIds (GRCh38): ENSG00000185808
EnsemblGeneIds (GRCh37): ENSG00000185808
OMIM: 605938, Gene2Phenotype
PIGP is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Seven individuals from three unrelated families reported. Severe disorder characterised by early-onset seizures, and intellectual disability.
Sources: Expert listCreated: 28 Nov 2020, 4:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 55, MIM# 617599
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Developmental and epileptic encephalopathy 55, MIM# 617599
- OMIM
- 605938
- Clinvar variants
- Variants in PIGP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PIGP were set to 31139695; 32042915
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pigp has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pigp has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PIGP was added gene: PIGP was added to Congenital Disorders of Glycosylation. Sources: Expert list Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGP were set to 31139695; 32042915 Phenotypes for gene: PIGP were set to Developmental and epileptic encephalopathy 55, MIM# 617599 Review for gene: PIGP was set to GREEN