IUGR and IGF abnormalities
Gene: POU1F1EnsemblGeneIds (GRCh38): ENSG00000064835
EnsemblGeneIds (GRCh37): ENSG00000064835
OMIM: 173110, Gene2Phenotype
POU1F1 is in 9 panels
2 reviews
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
- Variable degree of TSH deficiency
- OMIM
- 173110
- Clinvar variants
- Variants in POU1F1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: POU1F1 were changed from GH, PRL deficiencies; variable degree of TSH deficiency to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038; Variable degree of TSH deficiency
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for POU1F1 were set to GH, PRL deficiencies; variable degree of TSH deficiency
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for POU1F1 were set to GH, PRL deficiencies; variable degree of TSH deficiency
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for POU1F1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()POU1F1 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory