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 1.50	1 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 1.24	1 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 1.21	1 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 1.3512	1 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 0.565	0 reviews	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 1.410	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes septooptic dysplasia MONDO:0008428, Pituitary hormone deficiency, combined, 5 MONDO:0013099
Green HESX1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	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 0.58	0 reviews	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	0 reviews	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 0.53	1 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 1.83	1 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 1.465	1 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 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Septooptic dysplasia, MIM#182230 Pituitary hormone deficiency, combined, 5 MIM#182230 Growth hormone deficiency with pituitary anomalies, MIM#182230
Green HESX1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 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