ADGRG1

Red ADGRG1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.59
Latest signed off version: v2.2 (2 Mar 2020)

Sources

• Yorkshire and North East GLH
• NHS GMS
• Expert Review Red
• UKGTN

Phenotypes

• Cerebral Malformation Disorders

Red ADGRG1 in White matter disorders and cerebral calcification - narrow panel

Version 1.240
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Red

Phenotypes

• Cerebral Malformation Disorders

Green ADGRG1 in Ataxia and cerebellar anomalies - narrow panel

Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Polymicrogyria, bilateral frontoparietal 606854

Green ADGRG1 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.148
Latest signed off version: v2.2 (25 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• UKGTN

Phenotypes

• Polymicrogyria, bilateral frontoparietal 606854
• Polymicrogyria, bilateral perisylvian 615752

Red ADGRG1 in Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.159

Sources

• UKGTN

Phenotypes

• Cerebral Malformation Disorders

Green ADGRG1 in Cerebellar hypoplasia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.63

Sources

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

Phenotypes

• Polymicrogyria, bilateral frontoparietal 606854

Green ADGRG1 in Fetal anomalies

Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• POLYMICROGYRIA

Green ADGRG1 in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• POLYMICROGYRIA 606854

Green ADGRG1 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.563
Latest signed off version: v2.2 (13 Feb 2020)

Sources

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

Phenotypes

• Polymicrogyria, bilateral frontoparietal, 606854

Green ADGRG1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Polymicrogyria, bilateral frontoparietal, 606854

Amber ADGRG1 in Hereditary ataxia - adult onset

Version 2.158
Latest signed off version: v2.13 (6 Oct 2020)

Sources

• Expert Review Amber
• NHS GMS
• Wessex and West Midlands GLH

Phenotypes

• Polymicrogyria, Frontoparietal OMIM:606854
• bilateral frontoparietal polymicrogyria MONDO:0011738
• Polymicrogyria, perisylvian type OMIM:615752
• polymicrogyria, bilateral perisylvian, autosomal recessive MONDO:0014333

Red ADGRG1 in Childhood onset dystonia or chorea or related movement disorder

Version 1.241
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• Expert Review Red
• London North GLH

Green ADGRG1 in Severe Paediatric Disorders

Version 1.127

Sources

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

Phenotypes

• Polymicrogyria, bilateral perisylvian, 615752
• Polymicrogyria, bilateral frontoparietal, 606854