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Intellectual disability

Gene: PIGC

Amber List (moderate evidence)

PIGC (phosphatidylinositol glycan anchor biosynthesis class C)
EnsemblGeneIds (GRCh38): ENSG00000135845
EnsemblGeneIds (GRCh37): ENSG00000135845
OMIM: 601730, Gene2Phenotype
PIGC is in 3 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are now at least 3 unrelated families with biallelic variants in this gene, and severe DD/ID is evident in all cases (PMIDs: 27694521; 32707268) . Therefore, PIGC can be upgraded to Green status at the next GMS panel update.
Created: 27 Apr 2021, 3:25 p.m. | Last Modified: 27 Apr 2021, 3:25 p.m.
Panel Version: 3.1041
Pons et al. 2020 (PMID: 32707268) report 2 sibs displaying severe psychomotor delay, seizures, organomegaly, cardiopulmonary anomalies, and similar facial dysmorphism. Sequencing revealed a homozygous variant in PIGC gene, c.12_13insTTGTGACTAACA leading to a premature stop codon p.(Gln4_Pro5insLeu*)
Created: 27 Apr 2021, 3:20 p.m. | Last Modified: 27 Apr 2021, 3:20 p.m.
Panel Version: 3.1038

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816

Publications

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Amber following external review by Zornitza Stark. Not yet associated with a disorder in OMIM, and two cases in the current literature (PMID:27694521).
Created: 1 Jul 2019, 3:20 p.m. | Last Modified: 1 Jul 2019, 3:20 p.m.
Panel Version: 2.931
PMID:27694521: Edvardson et al. 2017 studied 2 unrelated families (two siblings from consanguineous Moslem-Arab parents, and a son of unrelated Sephardic-Jewish parents) who suffered from ID and seizures. PIGC variants were found: homozygous p.L189W in one family, and compound het variant (L212P/R21X) in another.
Created: 1 Jul 2019, 3:15 p.m. | Last Modified: 1 Jul 2019, 3:15 p.m.
Panel Version: 2.930

Zornitza Stark (Australian Genomics)

I don't know

Individuals from two unrelated families reported, ID is part of the phenotype, consider Amber status.
Created: 22 Jun 2018, 2:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 16

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816
Tags
Q2_21_rating
OMIM
601730
Clinvar variants
Variants in PIGC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pigc has been classified as Amber List (Moderate Evidence).

27 Apr 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PIGC were changed from Glycosylphosphatidylinositol biosynthesis defect 16, 617816 to Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816

27 Apr 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PIGC were set to 27694521

27 Apr 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: PIGC.

1 Jul 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pigc has been classified as Amber List (Moderate Evidence).

1 Jul 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PIGC were changed from Glycosylphosphatidylinositol biosynthesis defect 16 to Glycosylphosphatidylinositol biosynthesis defect 16, 617816

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PIGC.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

PIGC was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

PIGC was created by Zornitza Stark