Genomics England
GMS Panels
Panels
Genes and Entities

MACF1

microtubule-actin crosslinking factor 1
OMIM: 608271
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Defects in Neuronal Migration and Axon Guidance
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 4.134
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual disability, Seizures, Lissencephaly, Brainstem dysplasia, Lissencephaly 9 with complex brainstem malformation, 618325
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 9 with complex brainstem malformation, OMIM:618325, Lissencephaly 9 with complex brainstem malformation, MONDO:0032677
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability, Seizures, Lissencephaly, Brainstem dysplasia, Lissencephaly 9 with complex brainstem malformation, 618325
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 4.12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 9 with complex brainstem malformation, 618325