Hereditary ataxia with onset in adulthood
Gene: ADGRG1EnsemblGeneIds (GRCh38): ENSG00000205336
EnsemblGeneIds (GRCh37): ENSG00000205336
OMIM: 604110, Gene2Phenotype
ADGRG1 is in 12 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with childhood onset of ataxia.Created: 26 May 2021, 7:59 a.m. | Last Modified: 26 May 2021, 7:59 a.m.
Panel Version: 2.59
Zornitza Stark (Australian Genomics)
Childhood onset.Created: 13 Sep 2020, 8:20 a.m. | Last Modified: 13 Sep 2020, 8:20 a.m.
Panel Version: 2.9
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple families reported cerebellar signs and ataxia reported within phenotypesCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, Frontoparietal and perisylvian types, 606854, 615752
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- 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
- OMIM
- 604110
- Clinvar variants
- Variants in ADGRG1
- Penetrance
- None
- Panels with this gene
-
- Inherited white matter disorders
- Fetal anomalies
- Cerebral vascular malformations
- White matter disorders and cerebral calcification - narrow panel
- Malformations of cortical development
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Early onset or syndromic epilepsy
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_phenotype was removed from gene: ADGRG1.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Amber was added to ADGRG1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ADGRG1 were changed from Polymicrogyria, Frontoparietal, 606854; Polymicrogyria, perisylvian type, 615752 to Polymicrogyria, Frontoparietal OMIM:606854; bilateral frontoparietal polymicrogyria MONDO:0011738; Polymicrogyria, perisylvian type OMIM:615752; polymicrogyria, bilateral perisylvian, autosomal recessive MONDO:0014333
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_phenotype tag was added to gene: ADGRG1.
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: ADGRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: adgrg1 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Polymicrogyria, Frontoparietal, 606854; Polymicrogyria, perisylvian type, 615752 for gene: ADGRG1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ADGRG1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ADGRG1 was added gene: ADGRG1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ADGRG1 was set to