IUGR and IGF abnormalities

Gene: HESX1

Green List (high evidence)

HESX1 (HESX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000163666
EnsemblGeneIds (GRCh37): ENSG00000163666
OMIM: 601802, Gene2Phenotype
HESX1 is in 9 panels

2 reviews

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Septo-optic dysplasia
  • variable involvement of pituitary hormones
OMIM
601802
Clinvar variants
Variants in HESX1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 May 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for HESX1 were set to Septo-optic dysplasia; variable involvement of pituitary hormones

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Apr 2016, Gel status: 4

Set Phenotypes

emma baple (Genomics England Curator)

Phenotypes for HESX1 were set to Septo-optic dysplasia; variable involvement of pituitary hormones

25 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for HESX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

25 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for HESX1 was changed to BIALLELIC, autosomal or pseudoautosomal

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

HESX1 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory