Genomics England
GMS Panels
Panels
Genes and Entities

MN1

MN1 proto-oncogene, transcriptional regulator
OMIM: 156100
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MN1 C-terminal truncation syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CEBALID syndrome, OMIM:618774, CEBALID syndrome, MONDO:0032908
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CEBALID syndrome, OMIM:618774, CEBALID syndrome, MONDO:0032908
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CEBALID syndrome, OMIM:618774, CEBALID syndrome, MONDO:0032908
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.57
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CEBALID syndrome, OMIM:618774, CEBALID syndrome, MONDO:0032908