HESX1

HESX homeobox 1
OMIM: 601802, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red HESX1 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.39	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Septooptic dysplasia, MIM# 182230
Green HESX1 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pituitary hormone deficiency, combined, 5, MIM# 182230
Green HESX1 in Holoprosencephaly and septo-optic dysplasia Level 2: Neurology and neurodevelopmental disorders Version 1.16	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Septooptic dysplasia, MIM# 182230
Green HESX1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth hormone deficiency with pituitary anomalies, MIM#182230 Pituitary hormone deficiency, combined, 5, MIM#182230 Septooptic dysplasia, MIM#182230
Green HESX1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green HESX1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green HESX1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Septooptic dysplasia, 182230 (3)
Green HESX1 in Pituitary hormone deficiency Level 2: Endocrine disorders Version 0.34	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Growth hormone deficiency with pituitary anomalies (182230) Pituitary hormone deficiency, combined, 5 (182230)
Red HESX1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Pituitary hypoplasia
Green HESX1 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.43	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 5, MIM# 182230
Green HESX1 in Growth failure Version 1.76	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Septooptic dysplasia, MIM# 182230 Growth hormone deficiency with pituitary anomalies, MIM#182230
Green HESX1 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Septooptic dysplasia, OMIM:182230 Septooptic dysplasia, MONDO:0008428
Green HESX1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Septooptic dysplasia, 182230 (3)
Green HESX1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BeginNGS Phenotypes Pituitary hormone deficiency, combined, 5, MIM# 182230 Tags treatable endocrine