Cerebellar and Pontocerebellar Hypoplasia
Gene: ADGRG1EnsemblGeneIds (GRCh38): ENSG00000205336
EnsemblGeneIds (GRCh37): ENSG00000205336
OMIM: 604110, Gene2Phenotype
ADGRG1 is in 14 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
aka GPR56
PMID: 15044805 - paper linked from PanelApp UK - no patients with relevant phenotype
PMID: 20929962 - terminated fetus with agenesis of the cerebellar vermis and hypoplastic cerebellar hemispheres, was homozygous for a missense. Cerebellar dysplasia was observed in all patients (13/13), with vermis involvement in 11/13 patients. Hypoplasia with flattening of the ventral portion of the pons at the level of the middle cerebellar peduncle was detected in all patients
PMID: 16240336 - 17/18 families show brainstem/cerebellar hypoplasia
Sources: Expert ReviewCreated: 15 Apr 2020, 4:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, bilateral frontoparietal 606854; Polymicrogyria, bilateral perisylvian 615752
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Polymicrogyria, bilateral frontoparietal 606854
- Polymicrogyria, bilateral perisylvian 615752
- OMIM
- 604110
- Clinvar variants
- Variants in ADGRG1
- Penetrance
- None
- Publications
- 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 Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adgrg1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: ADGRG1 was added gene: ADGRG1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADGRG1 were set to PMID: 20929962; 16240336 Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal 606854; Polymicrogyria, bilateral perisylvian 615752 Review for gene: ADGRG1 was set to GREEN