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Prepair 1000+

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

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Onset in infancy
- 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.
- More than 5 unrelated families reported.
Created: 7 Jan 2025, 2:38 a.m. | Last Modified: 7 Jan 2025, 2:38 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

16 Jan 2025, 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).

16 Jan 2025, 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 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGT were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 for gene: PIGT

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGT was added gene: PIGT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3