Genomics England
GMS Panels
Panels
Genes and Entities

MAST1

microtubule associated serine/threonine kinase 1
OMIM: 612256
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MAST1-related developmental disorder (monoallelic)
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures, Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273