ACTB

Green ACTB in COVID-19 research

Level 2: Viral research
Version 1.142

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 1.147

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 1.178

Sources

• Expert Review Green
• Literature

Phenotypes

• Baraitser-Winter syndrome 1 with macrothrombocytopenia
• Platelet disorder

Green ACTB in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Emory Genetics Laboratory
• UKGTN
• Radboud University Medical Center, Nijmegen
• Expert Review

Phenotypes

• Baraitser Winter syndrome (lissencephaly, pachygyria, polymicrogyria, ptosis, coloboma)

Red ACTB in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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 1.47

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen
• Literature
• UKGTN

Phenotypes

• Baraitser-Winter syndrome 1, 243310

Green ACTB in Mosaic skin disorders - deep sequencing

Version 2.47
Latest signed off version: v2.0 (30 Nov 2022)

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Green ACTB in Bleeding and platelet disorders

Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

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

Version 3.34
Latest signed off version: v3.0 (22 Mar 2023)

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

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

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 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

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 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• BARAITSER-WINTER SYNDROME
• ACTB Haploinsufficiency syndtome

Red ACTB in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

Component of the following Super Panels:

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 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• BARAITSER-WINTER SYNDROME 1
• BRWS1

Green ACTB in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

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

Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Baraitser-Winter syndrome 1, 243310

Green ACTB in Adult onset dystonia, chorea or related movement disorder

Version 3.19
Latest signed off version: v3.12 (31 Jul 2023)

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

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Green
• South West GLH

Phenotypes

• ?Dystonia, juvenile-onset
• Baraitser-Winter syndrome 1, 243310

Green ACTB in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Baraitser-Winter syndrome 1, 243310