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Fetal anomalies

Gene: PIGH

Green List (high evidence)
PIGH (phosphatidylinositol glycan anchor biosynthesis class H)
EnsemblGeneIds (GRCh38): ENSG00000100564
EnsemblGeneIds (GRCh37): ENSG00000100564
OMIM: 600154, Gene2Phenotype
PIGH is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Green on 3 other panels. Mainly ID& epilepsy disorder. PMID:29573052 - 2 siblings both reported normal pregnancies, notes microcephaly developed after birth. MRI mildly dysplatic corpus callosum in both. PMID:33156547 - 4 patients inc 2 sibs, sibs have severe phenotype with unusual fetures inc scoliosis and multible bone fractures. Care to be taken in case 2nd dx. Dymyelination on brain MRI in 2/4 29603516 1 patient Brain imaging describes as normal. PMID:35445667 - 1 patient brain MRI at 1 year of age showed delayed myelination and mild cerebral atrophy. Brain MRI at 2 years of age showed normal myelination with cerebral atrophy. Borderline but other pigopathies on panel (A, N, L, O, V, T). Amber awaiting further info on prenatal phenotype.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010
OMIM
600154
Clinvar variants
Variants in PIGH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: PIGH. Tag Q3_24_NHS_review was removed from gene: PIGH.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to PIGH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: PIGH. Tag Q3_24_NHS_review tag was added to gene: PIGH.

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PIGH was added gene: PIGH was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGH were set to 29603516; 29573052; 33156547; 35445667 Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010