PanelApp
  1. Genes and Genomic Entities
  2. ACTB

ACTB

actin beta
OMIM: 102630, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green ACTB in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Baraitser-Winter syndrome 1 (MIM#243310)

    Green ACTB in Anophthalmia_Microphthalmia_Coloboma


    Level 2: Ophthalmological disorders
    Version 1.50

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Baraitser-Winter syndrome 1, MIM#243310

    Green ACTB in Bleeding and Platelet Disorders


    Level 2: Haematological disorders
    Version 1.62

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    Phenotypes
    • Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475

    Green ACTB in Bone Marrow Failure


    Level 2: Haematological disorders
    Version 1.129

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475

    Green ACTB in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.400

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Baraitser-Winter syndrome 1 MIM#243310

    Green ACTB in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.72

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Baraitser-Winter syndrome 1, MIM# 243310

    Green ACTB in Kabuki syndrome


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.16

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ACTB in Mendeliome


    Version 1.3512

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Baraitser-Winter syndrome 1 243310
    • Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
    • ACTB-related neurodevelopment disorder

    Green ACTB in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Baraitser-Winter syndrome 1 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475

    Green ACTB in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ACTB in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.238

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Baraitser-Winter syndrome 1, MIM# 243310
    • Dystonia, juvenile-onset, MIM# 607371

    Amber ACTB in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.44

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Baraitser-Winter syndrome 1, MIM# 243310

    Green ACTB in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Baraitser-Winter syndrome 1, MIM# 243310
    • Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
    • ACTB-related neurodevelopment disorder

    Green ACTB in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Baraitser-Winter syndrome 1, 243310
    • Dystonia, juvenile-onset, 607371

    Red ACTB in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    • BabySeq Category A gene
    Phenotypes
    • Neutrophil dysfunction and recurrent infection
    • Baraitser-Winter syndrome

    Green ACTB in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • BRWS1
    • BARAITSER-WINTER SYNDROME 1

    Green ACTB in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.14

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Becker nevus, somatic mosaic, MIM# 604919
    Tags
    • somatic

    Green ACTB in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Baraitser-Winter syndrome 1, MIM#243310

    Red ACTB in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • BabySeq Category A gene
    • Expert Review Red
    Phenotypes
    • Baraitser-Winter syndrome
    • Neutrophil dysfunction and recurrent infection

    Green ACTB in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Syndromic thrombocytopaenia