HUWE1

HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
OMIM: 300697, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green HUWE1 in Blepharophimosis Level 2: Ophthalmological disorders Version 1.1	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Turner type, MIM# 309590 MONDO:0010407
Amber HUWE1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590
Green HUWE1 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Turner type MIM#309590
Green HUWE1 in Mendeliome Version 1.1891	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Turner type Say-Meyer syndrome Juberg-Marsidi syndrome
Green HUWE1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked syndromic, Turner type
Green HUWE1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked syndromic, Turner type, 300706 (3)
Green HUWE1 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Mental retardation, X-linked syndromic, Turner type, MIM#309590
Green HUWE1 in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked syndromic, Turner type, 300706 (3)
Green HUWE1 in Prepair 500+ Level 2: Screening Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked syndromic, Turner type, 300706 (3)