Hereditary ataxia with onset in adulthood
Gene: ADGRG1The 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
Childhood onset.Created: 13 Sep 2020, 8:20 a.m. | Last Modified: 13 Sep 2020, 8:20 a.m.
Panel Version: 2.9
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.
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
Tag Q2_21_phenotype was removed from gene: ADGRG1.
Source Expert Review Amber was added to ADGRG1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
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
Tag Q2_21_phenotype tag was added to gene: ADGRG1.
Mode of inheritance for gene: ADGRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: adgrg1 has been classified as Green List (High Evidence).
Added phenotypes Polymicrogyria, Frontoparietal, 606854; Polymicrogyria, perisylvian type, 615752 for gene: ADGRG1
Source NHS GMS was added to ADGRG1.
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