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Intellectual disability

Gene: PIGH

Amber List (moderate evidence)

PIGH (phosphatidylinositol glycan anchor biosynthesis class H)
EnsemblGeneIds (GRCh38): ENSG00000100564
EnsemblGeneIds (GRCh37): ENSG00000100564
OMIM: 600154, Gene2Phenotype
PIGH is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Red to Amber, recent publications support gene-disease association three affecteds (2 unrelated) cases
Created: 13 Sep 2018, 9:19 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Amber
Created: 13 Sep 2018, 9:15 a.m.
Comment on phenotypes: added phenotypes suggested by external reviewer
Created: 13 Sep 2018, 9:13 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

I note this gene is Green on the epilepsy panel, and I agree this family of genes cause similar phenotypes, there is some functional data to support the gene-disease relationship, so we have rated it Green on both panels.
Created: 10 Feb 2020, 5:34 a.m. | Last Modified: 10 Feb 2020, 5:34 a.m.
Panel Version: 3.0
Please note two recent reports.
Created: 3 Sep 2018, 2:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 17, MIM#618010

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect, 17
  • 618010
  • Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures
Tags
Autism Spectrum Disorder
OMIM
600154
Clinvar variants
Variants in PIGH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

13 Sep 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PIGH were set to 29603516

13 Sep 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PIGH were changed from hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures to Glycosylphosphatidylinositol biosynthesis defect, 17; 618010; Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures

4 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PIGH was added to Intellectual disability panel. Sources: Literature

4 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PIGH was created by Ellen McDonagh