Monogenic hearing loss
Gene: PROP1

PROP1 (PROP paired-like homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000175325
EnsemblGeneIds (GRCh37): ENSG00000175325
OMIM: 601538, Gene2Phenotype
PROP1 is in 11 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#262600:Pituitary hormone deficiency, combined, 2[Short stature (if untreated); Hypoglycemic seizures; Neonatal hypoglycemia; Sequential loss of anterior pituitary tropic hormonesPanhypopituitarismHypothyroidismHypoadrenalismHypogonadism; Low or absent growth hormone (GH)Low or absent thyroid-stimulating hormone (TSH)Low or absent follicle-stimulating hormone (FSH)Low or absent luteinizing hormone (LH)Low or absent prolactin (PL)Low or absent adrenocorticotropic hormone (ACTH); Caused by by mutations in the prophet of Pit1, paired-like homeodomain transcription factor gene (PROP1,)]

Publications

Created: 7 Feb 2016, 9 a.m.

Panel version: 0.105

Details

Sources

Expert

OMIM

601538

Clinvar variants

Variants in PROP1

Penetrance

Complete

Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PROP1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert