COL4A2

Red COL4A2 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Yorkshire and North East GLH
• NHS GMS
• Expert Review Red
• Other
• Radboud University Medical Center, Nijmegen

Phenotypes

• {Hemorrhage, intracerebral, susceptibility to}, 614519
• {Hemorrhage, intracerebral, susceptibility to}

Green COL4A2 in Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.17

Sources

• Expert Review Green
• UKGTN
• Expert list
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• Literature

Phenotypes

• porencephaly
• infantile heiparesis, intracerebral haemorrhages
• Porencephaly 2 614483
• {Hemorrhage, intracerebral, susceptibility to} 614519

Green COL4A2 in Adult onset leukodystrophy

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

Sources

• Expert Review Green
• NHS GMS
• Yorkshire and North East GLH

Phenotypes

• Brain small vessel disease 2, OMIM:614483

Green COL4A2 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
• NHS GMS
• Literature

Phenotypes

• Brain small vessel disease 2, OMIM:614483
• {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519

Red COL4A2 in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.24
Latest signed off version: v4.23 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• London South GLH
• Expert Review Red
• Expert Review

Red COL4A2 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

Sources

• Expert Review Red
• Expert Review

Green COL4A2 in Adult onset neurodegenerative disorder

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

Sources

• Expert Review Green
• NHS GMS
• Expert list

Phenotypes

• Brain small vessel disease 2, OMIM:614483
• {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519

Green COL4A2 in Fetal anomalies

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

Sources

• Expert Review Green
• PAGE DD-Gene2Phenotype

Phenotypes

• PORENCEPHALY 2

Green COL4A2 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

• PORENCEPHALY 2 614483

Green COL4A2 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Wessex and West Midlands GLH
• NHS GMS
• Expert Review Green
• Victorian Clinical Genetics Services
• Expert

Phenotypes

• Porencephaly 2 614483

Green COL4A2 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

• Porencephaly 2, 614483{Hemorrhage, intracerebral, susceptibility to}, 614519
• PORENCEPHALY 2

Green COL4A2 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Brain small vessel disease 2, 614483