IUGR and IGF abnormalities

Gene: POU1F1

Green List (high evidence)

POU1F1 (POU class 1 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000064835
EnsemblGeneIds (GRCh37): ENSG00000064835
OMIM: 173110, Gene2Phenotype
POU1F1 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
  • GH, PRL deficiencies
  • variable degree of TSH deficiency
OMIM
173110
Clinvar variants
Variants in POU1F1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 May 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for POU1F1 were set to GH, PRL deficiencies; variable degree of TSH deficiency

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 POU1F1 were set to GH, PRL deficiencies; variable degree of TSH deficiency

25 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for POU1F1 was changed to BOTH monoallelic and 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 ()

POU1F1 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory