PanelApp
  1. Genes and Genomic Entities
  2. MACF1

MACF1

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MACF1 in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.30

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 1.98

    		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 1.407

    		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 1.4216

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lissencephaly 9 with complex brainstem malformation, MIM# 618325
    • Congenital myasthenic syndrome, MONDO:0018940, MACF1-related

    Green MACF1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.362

    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 1.638

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

    Amber MACF1 in Congenital Myasthenia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital myasthenic syndrome, MONDO:0018940, MACF1-related

    Green MACF1 in Fetal anomalies


    Version 1.522

    		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