Cerebral vascular malformations
Gene: ADGRG1EnsemblGeneIds (GRCh38): ENSG00000205336
EnsemblGeneIds (GRCh37): ENSG00000205336
OMIM: 604110, Gene2Phenotype
ADGRG1 is in 14 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
CVM/CCM is not a feature of this condition.Created: 25 Nov 2024, 6:33 a.m. | Last Modified: 25 Nov 2024, 6:33 a.m.
Panel Version: 0.39
Phenotypes
bilateral frontoparietal polymicrogyria MONDO:0011738
Details
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- bilateral frontoparietal polymicrogyria MONDO:0011738
- OMIM
- 604110
- Clinvar variants
- Variants in ADGRG1
- Penetrance
- None
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Intellectual disability syndromic and non-syndromic
- Cerebral vascular malformations
- Callosome
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adgrg1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ADGRG1 were changed from Cerebral Malformation Disorders to bilateral frontoparietal polymicrogyria MONDO:0011738
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ADGRG1 was added gene: ADGRG1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ADGRG1 was set to Phenotypes for gene: ADGRG1 were set to Cerebral Malformation Disorders