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 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Defects in Neuronal Migration and Axon Guidance
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual disability, Seizures, Lissencephaly, Brainstem dysplasia, Lissencephaly 9 with complex brainstem malformation, 618325
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 9 with complex brainstem malformation, OMIM:618325, Lissencephaly 9 with complex brainstem malformation, MONDO:0032677
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
Intellectual disability, Seizures, Lissencephaly, Brainstem dysplasia, Lissencephaly 9 with complex brainstem malformation, 618325
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 9 with complex brainstem malformation, 618325