Genomics England
GMS Panels
Panels
Genes and Entities

USP9X

ubiquitin specific peptidase 9, X-linked
OMIM: 300072
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.5
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked 99 300919 XLR, Mental retardation, X-linked 99, syndromic, female-restricted 300968
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
MENTAL RETARDATION, X-LINKED 99 300919
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
MENTAL RETARDATION, X-LINKED 99
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked 99, OMIM:300919, Mental retardation, X-linked 99, syndromic, female-restricted OMIM:300968
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked 99 300919 XLR, Mental retardation, X-linked 99, syndromic, female-restricted 300968
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked 99, syndromic, female-restricted, Polydactyly
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968