Genomics England
GMS Panels
Panels
Genes and Entities

EHMT1

euchromatic histone lysine methyltransferase 1
OMIM: 607001
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kleefstra syndrome
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kleefstra syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
9Q SUBTELOMERIC DELETION SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kleefstra syndrome, 610253, 9Q SUBTELOMERIC DELETION SYNDROME (9Q- SYNDROME)