PanelApp (staging)
  1. Genes and Genomic Entities
  2. MAST1

MAST1

microtubule associated serine/threonine kinase 1
OMIM: 612256, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MAST1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.195

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273

    Green MAST1 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.78

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273

    Amber MAST1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MIM#618273

    Green MAST1 in Mendeliome


    Version 1.2302

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
    • OMIM #618273

    Green MAST1 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 Review
    Phenotypes
    • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
    • OMIM #618273

    Green MAST1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
    • OMIM #618273

    Green MAST1 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
    • Literature
    Phenotypes
    • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
    • OMIM #618273

    Green MAST1 in Fetal anomalies


    Version 1.313

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations - #61827
    • corpus callosum anomalies
    • cortical malformations
    • cerebellar hypoplasia