Pituitary hormone deficiency
Gene: PITX2
PITX2 (paired like homeodomain 2)
EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 16 panels
1 review
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Jan 2019, 12:03 p.m.
PIT2X is confirmed to be associated with the listed phenotypes in OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities (Version 1.25).Created: 8 Jan 2019, 1:33 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Axenfeld-Rieger syndrome, type 1 (180500)
- Anterior segment dysgenesis 4 (137600)
- OMIM
- 601542
- Clinvar variants
- Variants in PITX2
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- Corneal abnormalities
- Monogenic short stature
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- 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
30 Jan 2019, Gel status: 3
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: PIT2X is confirmed to be assoc
8 Jan 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pitx2 has been classified as Green List (High Evidence).
10 Dec 2018, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PITX2 was added gene: PITX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX2 were set to Axenfeld-Rieger syndrome, type 1 (180500); Anterior segment dysgenesis 4 (137600)