Congenital Disorders of Glycosylation
Gene: PIGFEnsemblGeneIds (GRCh38): ENSG00000151665
EnsemblGeneIds (GRCh37): ENSG00000151665
OMIM: 600153, Gene2Phenotype
PIGF is in 4 panels
3 reviews
Sangavi Sivagnanasundram (Melbourne Health)
Classified Red by ClinGen Congenital Disorders of Glycosylation GCEP on 07/11/2024 - https://search.clinicalgenome.org/CCID:008517
Classified Limited due to lack of evidence. LoF is the proposed mechanism of disease however no functional assays have been conducted.Created: 17 Dec 2024, 1:26 a.m. | Last Modified: 17 Dec 2024, 1:26 a.m.
Panel Version: 1.58
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome MONDO:0859161
Publications
- https://search.clinicalgenome.org/CCID:008517
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356
Paul De Fazio (Victorian Clinical Genetics Services)
The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.
Rated Red as the two families are likely to be related (founder mutation?).
Sources: LiteratureCreated: 1 Feb 2021, 9:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356
- OMIM
- 600153
- Clinvar variants
- Variants in PIGF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PIGF were changed from Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures to Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pigf has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pigf has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: PIGF was added gene: PIGF was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGF were set to 33386993 Phenotypes for gene: PIGF were set to Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures Review for gene: PIGF was set to RED gene: PIGF was marked as current diagnostic