Genomics England
GMS Panels
Panels
Genes and Entities

MACF1

microtubule-actin crosslinking factor 1
OMIM: 608271
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.1
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 Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual disability, Seizures, Lissencephaly, Brainstem dysplasia, Lissencephaly 9 with complex brainstem malformation, 618325
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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 malformations
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 9 with complex brainstem malformation, 618325