Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

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 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families reported.
Sources: Expert list
Created: 10 Feb 2020, 5:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 17, MIM#618010

Publications

Details

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

History Filter Activity

10 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGH were set to 29573052; 29603510

10 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGH was added gene: PIGH was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGH were set to 29573052; 29603510 Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM#618010 Review for gene: PIGH was set to AMBER