PITX2:Ensemblv90

paired like homeodomain 2
OMIM: 601542, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green PITX2 in Eye Anterior Segment Abnormalities Level 2: Ophthalmological disorders Version 1.17	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 4, MIM# 137600 Axenfeld-Rieger syndrome, type 1, MIM# 180500
Green PITX2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.511	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red PITX2 in Corneal Dystrophy Level 2: Ophthalmological disorders Version 1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 4, MIM# 137600
Green PITX2 in Glaucoma congenital Level 2: Ophthalmological disorders Version 1.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Axenfeld-Rieger syndrome, type 1, MIM# 180500
Green PITX2 in Mendeliome Version 1.3802	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 4, MIM# 137600 Axenfeld-Rieger syndrome, type 1, MIM# 180500
Green PITX2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.578	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PITX2 in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.166	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 4 (137600) Axenfeld-Rieger syndrome, type 1 (180500)
Green PITX2 in Growth failure Version 1.87	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Axenfeld-Rieger syndrome, type 1, MIM# 180500
Green PITX2 in Fetal anomalies Version 1.482	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Anterior segment dysgenesis 4, OMIM #137600 Axenfeld-Rieger syndrome, type 1, OMIM #180500
Green PITX2 in Eye Anterior Segment Abnormalities Level 2: Ophthalmological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Anterior segment dysgenesis 4, MIM# 137600 Axenfeld-Rieger syndrome, type 1, MIM# 180500
Green PITX2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Red PITX2 in Corneal Dystrophy Level 2: Ophthalmological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Anterior segment dysgenesis 4, MIM# 137600
Green PITX2 in Glaucoma congenital Level 2: Ophthalmological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Axenfeld-Rieger syndrome, type 1, MIM# 180500
Green PITX2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green PITX2 in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Genomics England PanelApp Expert Review Green Phenotypes Anterior segment dysgenesis 4 (137600) Axenfeld-Rieger syndrome, type 1 (180500)
Green PITX2 in Growth failure Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Green Phenotypes Axenfeld-Rieger syndrome, type 1, MIM# 180500