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Fetal anomalies

Gene: PIGL

Green List (high evidence)

PIGL (phosphatidylinositol glycan anchor biosynthesis class L)
EnsemblGeneIds (GRCh38): ENSG00000108474
EnsemblGeneIds (GRCh37): ENSG00000108474
OMIM: 605947, Gene2Phenotype
PIGL is in 10 panels

2 reviews

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Bi-allelic variants in PIGL have been associated with a multisystem disorder clinically characterised by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME).

Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Some individuals have hyperphosphatasia.

p.(Leu167Pro) is a common founder variant, PTV have also been reported. Also note large deletion reported more than once. More than 10 unrelated families reported.
Created: 16 Jan 2025, 9:42 p.m. | Last Modified: 16 Jan 2025, 9:42 p.m.
Panel Version: 1.305

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHIME syndrome MIM#280000

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in PIGL have been associated with a multisystem disorder clinically characterised by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Some individuals have hyperphosphatasia. p.Leu167Pro is a common founder variant. Also note large deletion reported more than once. More than 10 unrelated families reported.
Created: 19 Dec 2020, 6:43 a.m. | Last Modified: 19 Dec 2020, 6:43 a.m.
Panel Version: 0.3293

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHIME syndrome, MIM# 280000, MONDO:0010221

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • CHIME syndrome, MIM# 280000, MONDO:0010221
Tags
SV/CNV
OMIM
605947
Clinvar variants
Variants in PIGL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIGL were changed from ZUNICH NEUROECTODERMAL SYNDROME to CHIME syndrome, MIM# 280000, MONDO:0010221

2 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGL were set to

2 Mar 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: PIGL.

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGL was added gene: PIGL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGL were set to ZUNICH NEUROECTODERMAL SYNDROME