Genomics England
GMS Panels
Panels
Genes and Entities

ZMIZ1

zinc finger MIZ-type containing 1
OMIM: 607159
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Syndromic Neurodevelopmental Disorder
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, OMIM:618659
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Abnormality of head or neck, Microcephaly, Abnormality of the cardiovascular system, Abnormality of the skeletal system, Feeding difficulties, Intellectual disability, Global developmental delay, Abnormality of the urinary system, Growth abnormality, Global developmental delay, Intellectual disability, Feeding difficulties, Growth abnormality, Microcephaly, Abnormality of the skeletal system, Abnormality of the urinary system, Abnormality of the cardiovascular system, Abnormality of head or neck