Cerebral vascular malformations
Gene: ADGRG1
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
12 families reported in the original paper. ID, seizures and cerebellar abnormalities are common features in addition to the PMG.Created: 19 Oct 2021, 12:48 a.m. | Last Modified: 19 Oct 2021, 12:48 a.m.
Panel Version: 0.9406
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, bilateral frontoparietal, MIM#606854
Publications
OMIM #615752 caused by a recurring 15bp del within a regulatory element, also autosomal recessiveCreated: 15 Jun 2020, 1:11 a.m. | Last Modified: 15 Jun 2020, 1:11 a.m.
Panel Version: 0.3074
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, bilateral frontoparietal 606854; Polymicrogyria, bilateral perisylvian 615752
Publications
Ataxia is part of the phenotype
Sources: Expert listCreated: 27 Dec 2019, 4:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, bilateral frontoparietal, MIM#606854
Gene: adgrg1 has been classified as Red List (Low Evidence).
Phenotypes for gene: ADGRG1 were changed from Cerebral Malformation Disorders to bilateral frontoparietal polymicrogyria MONDO:0011738
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