Genomics England
GMS Panels
Panels
Genes and Entities

KDM6A

lysine demethylase 6A
OMIM: 300128
PanelMode of inheritanceDetails
6 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.102
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Kabuki syndrome 2, 300867
Green
in Congenital hyperinsulinism
R-numbers: R144
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Kabuki syndrome 2, 300867, X-linked dominant neonatal hypoglycaemia as part of Kabuki syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
KABUKI SYNDROME 2 300867
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
KABUKI SYNDROME 2
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Kabuki syndrome 2, OMIM:300867
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Kabuki syndrome 2, OMIM:300867, Recurrent infections (otitis media, pneumonia), Autoimmunity, Combined immunodeficiencies with associated or syndromic features