POU1F1

POU class 1 homeobox 1
OMIM: 173110, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green POU1F1 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	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
Green POU1F1 in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
Green POU1F1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
No list POU1F1 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Green POU1F1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038
Red POU1F1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Amber POU1F1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
Green POU1F1 in Congenital hypothyroidism Level 2: Endocrinology Version 3.3 Latest signed off version: v3.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038 Congenital hypothyroidism
Red POU1F1 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038 Variable degree of TSH deficiency