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Hearing loss

Gene: POU1F1

Red List (low evidence)

POU1F1 (POU class 1 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000064835
EnsemblGeneIds (GRCh37): ENSG00000064835
OMIM: 173110, Gene2Phenotype
POU1F1 is in 9 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#613038:Pituitary hormone deficiency, combined, 1[Short stature (if untreated); Severe growth retardation in infancy; Prominent forehead; Midface hypoplasia; Deep-set eyes; Depressed nasal bridgeShort nose with anteverted nostrils; Macroglossia (untreated hypothyroidism); Open sutures (untreated hypothyroidism)Open fontanelles (untreated hypothyroidism); Jaundice, neonatalMyxedema (untreated hypothyroidism); Hypotonia (untreated hypothyroidism); Hypoplasia of anterior or entire pituitary gland (frequent)Mental retardation (untreated hypothyroidism); Hypothyroidism; Low or absent growth hormone (GH)Low or absent thyroid-stimulating hormone (TSH)Low or absent prolactin (PL); Caused by mutation in the POU domain, class 1, transcription factor 1 gene (POU1F1,)]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

POU1F1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert