White matter disorders and cerebral calcification - narrow panel
Gene: ADGRG1
ADGRG1 (adhesion G protein-coupled receptor G1)
EnsemblGeneIds (GRCh38): ENSG00000205336
EnsemblGeneIds (GRCh37): ENSG00000205336
OMIM: 604110, Gene2Phenotype
ADGRG1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000205336
EnsemblGeneIds (GRCh37): ENSG00000205336
OMIM: 604110, Gene2Phenotype
ADGRG1 is in 12 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 604110
- Clinvar variants
- Variants in ADGRG1
- Penetrance
- None
- Panels with this gene
-
- Cerebellar hypoplasia
- Fetal anomalies
- Malformations of cortical development
- Hereditary ataxia with onset in adulthood
- DDG2P
- Intellectual disability
- Early onset or syndromic epilepsy
- Ataxia and cerebellar anomalies - narrow panel
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Cerebral vascular malformations
- Inherited white matter disorders
History Filter Activity
8 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ADGRG1 was added gene: ADGRG1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ADGRG1 was set to Unknown Phenotypes for gene: ADGRG1 were set to Cerebral Malformation Disorders