USP9X

ubiquitin specific peptidase 9, X-linked
OMIM: 300072, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green USP9X in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green USP9X 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 99, XLR (MIM#300919) and XLD (MIM#300968)
Green USP9X in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	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 99, syndromic, female-restricted, MIM# 300968
Green USP9X 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 99, XLR (MIM#300919) and XLD (MIM#300968)
Green USP9X in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	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 Phenotypes intellectual disability, X-linked 99 MONDO:0010487
Green USP9X 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 99, 300919 (3)
Green USP9X in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	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 Literature Phenotypes Mental retardation, X-linked 99 300919 XLR Mental retardation, X-linked 99, syndromic, female-restricted 300968
Green USP9X in Choanal atresia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	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 Expert list Phenotypes Mental retardation, X-linked 99, syndromic, female-restricted MIM#300968 MONDO:0010502
Green USP9X 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 Phenotypes Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968)
Green USP9X 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 99, 300919 (3)
Green USP9X 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 99, 300919 (3)