SETD2

SET domain containing 2
OMIM: 612778
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
SETD2-associated Overgrowth Syndrome
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
microcephaly, profound intellectual disability, congenital anomalies, dysmorphic facial features
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
Luscan-Lumish syndrome, 616831, intellectual disability
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Luscan-Lumish syndrome 616831, Luscan-Lumish syndrome 616831