PanelApp (staging)
  1. Genes and Genomic Entities
  2. MACF1

MACF1

microtubule-actin crosslinking factor 1
OMIM: 608271, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MACF1 in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.21

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lissencephaly 9 with complex brainstem malformation, MIM# 618325

    Green MACF1 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.78

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Lissencephaly 9 with complex brainstem malformation (MIM#618325)

    Red MACF1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Lissencephaly 9 with complex brainstem malformation, MIM#618325

    Green MACF1 in Mendeliome


    Version 1.2302

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lissencephaly 9 with complex brainstem malformation, MIM# 618325

    Green MACF1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lissencephaly 9 with complex brainstem malformation, MIM# 618325

    Green MACF1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lissencephaly 9 with complex brainstem malformation, MIM# 618325

    Green MACF1 in Fetal anomalies


    Version 1.313

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Lissencephaly 9 with complex brainstem malformation, MONDO:0032677
    • Lissencephaly 9 with complex brainstem malformation, OMIM:618325