1. Panels
  2. Microcephaly
  3. PIGH
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Microcephaly

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)

Three further families reported, including two sibs with microcephaly.
Created: 28 Nov 2020, 4:04 a.m. | Last Modified: 28 Nov 2020, 4:04 a.m.
Panel Version: 0.498
Progressive microcephaly reported in one family only.
Created: 3 Sep 2020, 2:01 a.m. | Last Modified: 3 Sep 2020, 2:01 a.m.
Panel Version: 0.377

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010

Publications

Created: 3 Sep 2020, 2:01 a.m.
Last Modified: 3 Sep 2020, 2:01 a.m.
Panel version: 0.498

Details

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

History Filter Activity

28 Nov 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).

3 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIGH were changed from to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010

3 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGH were set to

3 Sep 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PIGH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGH was added gene: PIGH was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIGH was set to Unknown