1. Panels
  2. Congenital Disorders of Glycosylation
  3. PIGT
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital Disorders of Glycosylation

Gene: PIGT

Green List (high evidence)
PIGT (phosphatidylinositol glycan anchor biosynthesis class T)
EnsemblGeneIds (GRCh38): ENSG00000124155
EnsemblGeneIds (GRCh37): ENSG00000124155
OMIM: 610272, Gene2Phenotype
PIGT is in 9 panels

1 review

Sarah Donoghue (Royal Children's Hospital)

Green List (high evidence)

Dysmorphology:High forehead, bitemporal narrowing, broad nasal root, antevered nose, depressed nasal bridge, long philtrum with a deep groove, cupid bow lips
Neuroimaging abnormalities: Global cerebral and cerebellar atrophy with predominant vermis and cerebellar atrophy, Brain imaging — Possible neuronal migration defect.

Transferrin isoforms usually normal in this condition.
Other laboratory abnormalities may be present
- Decreased alkaline phosphatase
- Increased serum calcium
- Hypercalciuria
Created: 30 Sep 2020, 6:24 a.m. | Last Modified: 30 Sep 2020, 6:24 a.m.
Panel Version: 0.164

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; Hypotonia; Leukodystrophy; Cortical visual impairment; Strabismus; Hearing Loss; Patent Ductus Arteriosus; Cardiomyopathy; Gastroesophageal Reflux; Nephrocalcinosis; Ureteric dilatation; Slender long bones; Scoliosis; Brachycephaly; Short arms; Pectus excavated; joint hyper mobility; High forehead; bitemporal narrowing; broad nasal root; antevered nose; depressed nasal bridge; long philtrum with a deep groove; cupid bow lips

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Sep 2020, 6:24 a.m.
Last Modified: 30 Sep 2020, 6:24 a.m.
Panel version: 0.164

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
OMIM
610272
Clinvar variants
Variants in PIGT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pigt has been classified as Green List (High Evidence).

19 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165

30 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGT were set to

30 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIGT were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398

30 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PIGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGT was added gene: PIGT was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIGT was set to Unknown