Congenital disorders of glycosylation
Gene: PIGW
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:14 a.m. | Last Modified: 1 Feb 2023, 9:14 a.m.
Panel Version: 3.4
PMID: 24367057 - (2013) - A patient born to non-consanguineous parents developed intractable seizures with typical hypsarrhythmic pattern in electroencephalography, and was diagnosed as having West syndrome. Because the patient showed severe developmental delay with dysmorphic facial features and hyperphosphatasia, characteristics often seen in IGDs, the patient was tested for GPI deficiency. The patient had decreased surface expression of GPI-APs on blood granulocytes and was identified to be compound heterozygous for NM_178517:c.211A>C and c.499A>G mutations in PIGW.
PMID: 27626616 - (2016) Two second-degree cousins with unexplained patterns of seizures. Next-generation sequencing identified the homozygous c.460A>G; p.(R154G) PIGW mutation in both patients. Transfection of the mutated allele into Pigw-defective CHO cells indicated impaired enzymatic activity of the mutated PIGW product. The patients' phenotype is remarkably different from the phenotype of the only other described individual with PIGW mutations.
PMID: 30813920 - (2019) A Chinese boy with compound heterozygous PIGW mutations who suffers from severe pneumonia, mental retardation, and epilepsy. A 70-day-old boy presented with fever and cough over 20 days in duration at the time of admission. At the age of 6 months, unusual facial features were apparent, and seizures were clinically observed, accompanied by obvious cognitive delay. Next-generation sequencing identified novel PIGW c.178G > A and c.462A > T mutations
PMID: 32198969 - (2020) A new patient with a novel homozygous missense variant in PIGW, who presented with hypotonia, severe intellectual disability, early-onset epileptic seizures, brain abnormalities, nystagmus, hand stereotypies, recurrent respiratory infections, distinctive facial features, and hyperphosphatasia. Our report expands the phenotype of GPI biosynthesis defect 11 to include stereotypies and recurrent respiratory infections. Summary - Multiple unrelated families reported with different recessive variants either homozygous or compound heterozygous. Functional studies showed impaired enzymatic activityCreated: 15 Jul 2020, 6:13 a.m. | Last Modified: 15 Jul 2020, 6:13 a.m.
Panel Version: 2.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intractable seizures; West syndrome; severe developmental delay; dysmorphic facial features; hyperphosphatasia; epilepsy; recurrent respiratory infections; hypotonia; stereotypies; Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025
Publications
Variants in this GENE are reported as part of current diagnostic practice
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least six variants reported in at least four unrelated cases.Created: 8 Feb 2021, 11:44 a.m. | Last Modified: 8 Feb 2021, 11:44 a.m.
Panel Version: 2.29
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 8 Feb 2021, 11:32 a.m. | Last Modified: 8 Feb 2021, 11:32 a.m.
Panel Version: 2.29
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Two variants reported in one caseCreated: 19 Dec 2016, 4:33 p.m.
Single patient reported. Classed as West-syndromeCreated: 13 Dec 2016, 5:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Tag Q2_21_rating was removed from gene: PIGW.
Source Expert Review Green was added to PIGW. Source NHS GMS was added to PIGW. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: PIGW.
Gene: pigw has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PIGW were changed from ?Hyperphosphatasia with mental retardation syndrome 5 616025 to Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025; hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457
Publications for gene: PIGW were set to 24367057
Promoted to V1 19th December 2016
This gene has been classified as Red List (Low Evidence).
PIGW was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
Phenotypes for PIGW were set to ?Hyperphosphatasia with mental retardation syndrome 5 616025
This gene has been classified as Red List (Low Evidence).
PIGW was added to Congenital disorders of glycosylationpanel. Sources: Literature
PIGW was created by ungardani