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Hearing loss

Gene: PITX2

Red List (low evidence)

PITX2 (paired like homeodomain 2)
EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 16 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PITX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory