Monogenic hearing loss
Gene: PITX2EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 16 panels
1 review
Jun Shen (Harvard Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#137600:Iridogoniodysgenesis, type 2[Glaucoma; Hypoplastic iris stroma; Light colored iris; Goniodysgenesis]; #180500:Axenfeld-Rieger syndrome, type 1[Maxillary hypoplasiaShort philtrumProminent supraorbital ridges; Iris dysplasia (goniodysgenesis)Iris hypoplasiaProminent Schwalbe line (posterior embryotoxon)GlaucomaDisplaced pupilsDyscoriaPolycoriaAniridiaMicrocorneaMegalocorneaStrabismus; Broad nasal bridge; Thin upper lip; Hypodontia (maxillary incisors); Umbilical defect (redundant periumbilical skin); Imperforate anusAnal stenosis; Hypospadias; Growth hormone deficiency]; #180550:Ring dermoid of cornea[Annular limbal dermoids extending onto cornea and conjunctiva]; #604229:Peters anomaly[<omim version=1.0><clinicalSynopsisList>]
Publications
- PMID:10051017
- 10372733
- 10499585
- 10499586
- 10958652
- 11172719
- 11301317
- 11420609
- 11487566
- 11929847
- 11948188
- 12015277
- 12124729
- 12464179
- 12612071
- 12700605
- 14985297
- 15591271
- 16203745
- 16449236
- 17823370
- 17951577
- 17994097
- 18723525
- 20566713
- 4214375
- 5346635
- 7581385
- 8942889
- 8944018
- 9147650
- 9437321
- 9480756
- 9539779
- 9618168
- 9685346
- 9708732
- 9708733
- 9708734
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- hearing loss
- OMIM
- 601542
- Clinvar variants
- Variants in PITX2
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- DDG2P
- Corneal abnormalities
- Monogenic short stature
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Sporadic aniridia
- IUGR and IGF abnormalities
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Anophthalmia or microphthalmia
- Intellectual disability
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)PITX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory