1. Genes and Genomic Entities
  2. ACTB

ACTB

actin beta
OMIM: 102630, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels
Green ACTB in COVID-19 research


Level 2: Viral research
Version 1.146

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Congenital defects of phagocyte number or function
  • neutrophil dysfunction
  • Mental retardation, short stature
  • Actin beta deficiency (ACTB)
  • Phagocytic disorder
  • Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia
  • Baraitser-Winter syndrome 1, 243310
Green ACTB in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia, juvenile-onset OMIM:607371
  • developmental malformations-deafness-dystonia syndrome MONDO:0011823
  • Baraitser-Winter syndrome 1 OMIM:243310
  • Baraitser-Winter syndrome 1 MONDO:0009470
Green ACTB in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.182

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Baraitser-Winter syndrome 1 with macrothrombocytopenia
  • Platelet disorder
Green ACTB in Malformations of cortical development


Level 2: Neurology
Version 7.30
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Expert Review
    Phenotypes
    • Baraitser Winter syndrome (lissencephaly, pachygyria, polymicrogyria, ptosis, coloboma)
    Red ACTB in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 8.78
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • IUIS Classification December 2019
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • ESID Registry 20171117
    • GRID V2.0
    Phenotypes
    • Actin beta deficiency (ACTB)
    • Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia
    • neutrophil dysfunction
    • Phagocytic disorder
    • Mental retardation, short stature
    • Baraitser-Winter syndrome 1, 243310
    • Congenital defects of phagocyte number or function
    Green ACTB in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.51

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Baraitser-Winter syndrome 1, 243310
    Green ACTB in Mosaic skin disorders - deep sequencing


    Level 2: Dermatology
    Version 3.27
    Latest signed off version: v3.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Green ACTB in Bleeding and platelet disorders


    Level 2: Haematology
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • North West GLH
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • thrombocytopenia, MONDO:0002049 (AD)
    Red ACTB in Cytopenia - NOT Fanconi anaemia


    Level 2: Haematology
    Version 4.32
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert review Red
    • NHS GMS
    • North West GLH
    • London South GLH
    • Yorkshire and North East GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Baraitser-Winter syndrome 1 with macrothrombocytopenia
    • Baraitser-Winter syndrome 1, 243310
    Red ACTB in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Unknown
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
    Green ACTB in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • BARAITSER-WINTER SYNDROME
    • ACTB Haploinsufficiency syndtome
    Green ACTB in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Baraitser-Winter syndrome 1, OMIM:243310
    • Baraitser-Winter syndrome 1, MONDO:0009470
    Tags
    • missense
    Green ACTB in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • BARAITSER-WINTER SYNDROME
    • ACTB Haploinsufficiency syndtome
    Red ACTB in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
    • Dystonia, juvenile onset, 607371
    Green ACTB in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • BARAITSER-WINTER SYNDROME 1
    • BRWS1
    Green ACTB in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
    • BARAITSER-WINTER SYNDROME
    Green ACTB in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Baraitser-Winter syndrome 1, 243310
    Green ACTB in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • South West GLH
    Phenotypes
    • Dystonia, juvenile-onset, OMIM:607371
    • developmental malformations-deafness-dystonia syndrome MONDO:0011823
    • Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470
    Green ACTB in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • South West GLH
    Phenotypes
    • ?Dystonia, juvenile-onset
    • Baraitser-Winter syndrome 1, 243310