ACTG1

Green ACTG1 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
• Radboud University Medical Center, Nijmegen
• UKGTN
• Emory Genetics Laboratory
• Expert Review

Phenotypes

• Baraitser Winter Syndrome

Green ACTG1 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47

Sources

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

Phenotypes

• Baraitser-Winter syndrome 2, 614583

Green ACTG1 in Fetal anomalies

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

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BARAITSER-WINTER SYNDROME

Green ACTG1 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
• Literature

Phenotypes

• Baraitser-Winter syndrome 2, OMIM:614583

Tags

• missense

Green ACTG1 in DDG2P

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

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BARAITSER-WINTER SYNDROME

Green ACTG1 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 Review Green
• Expert list
• Radboud University Medical Center, Nijmegen
• UKGTN
• Emory Genetics Laboratory

Phenotypes

• hearing loss
• Deafness, autosomal dominant 20/26, 604717
• Baraitser-Winter syndrome 2, 614583
• #604717
• Hearing loss, sensorineural, bilateral, progressive
• Hearing loss begins with loss of high frequencies
• Audiogram shows sloping configuration
• Deafness, profound, by 6th decade
• Trigonocephaly/metopic ridge
• Prominent/full/wide cheeks
• Pointed chin
• Retrognathia (in some patients)
• Abnormally shaped ears
• Deafness (in some patients)
• Microphthalmia (in some patients)
• Arched eyebrows
• Long palpebral fissures
• Eye coloboma (in some patients)
• Hypertelorism/telecanthus
• Ptosis
• Short, upturned nose
• Large, squared nose tip
• Prominent nasal root on profile
• Thick/prominent/everted lower lipCleft lip/palate (in some patients)
• Long philtrum
• Thin upper lip
• Large mouth
• Short neck (in some patients)
• Pterygium colli (in some patients)
• Heart defect (in some patients)
• Kyphosis/scoliosis (in some patients)
• Pectus (in some patients)
• Enlarged ventricles (in some patients)
• Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients)
• Epilepsy

Green ACTG1 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 2
• BRWS2

Green ACTG1 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

• Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583
• BARAITSER-WINTER SYNDROME

Green ACTG1 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 2, 614583

Green ACTG1 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Baraitser-Winter syndrome 2, 614583
• Deafness, autosomal dominant 20/26, 604717