POU1F1

POU class 1 homeobox 1
OMIM: 173110, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green POU1F1 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pituitary hormone deficiency, combined, 1 MIM# 613038
  • pituitary hypoplasia
  • severe growth failure
  • combined GH, PRL and TSH deficiency
  • distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils)

Green POU1F1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red POU1F1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Pituitary hormone deficiency, combined, 1, MIM# 613038

Green POU1F1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pituitary hormone deficiency, combined, 1, 613038 (3)

Green POU1F1 in Pituitary hormone deficiency


Level 2: Endocrine disorders
Version 0.34

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pituitary hormone deficiency, combined, 1 MIM# 613038
  • pituitary hypoplasia
  • severe growth failure
  • combined GH, PRL and TSH deficiency
  • distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils)

Green POU1F1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency

Green POU1F1 in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 0.43

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • congenital hypothyroidism
  • Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism)

Green POU1F1 in Growth failure


Version 1.76

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pituitary hormone deficiency, combined, 1 MIM# 613038
  • pituitary hypoplasia
  • severe growth failure
  • combined GH, PRL and TSH deficiency
  • distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils)

Green POU1F1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Pituitary hormone deficiency, combined, 1, MIM# 613038

Green POU1F1 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pituitary hormone deficiency, combined, 1, 613038 (3)

Green POU1F1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Pituitary hormone deficiency, combined, 1 MIM# 613038
Tags
  • treatable
  • endocrine

Green POU1F1 in Prepair 500+


Level 2: Screening
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pituitary hormone deficiency, combined, 1, 613038 (3)