Ataxia and cerebellar anomalies - narrow panel
Gene: GRM1One juvenile case (presenting ataxic gait and ID) associated with a heterozygous variant was reported (PMID:28886343) but this is not yet sufficient to test heterozygous variants on childhood-onset panel as this may pose a risk of detecting carrier status for an adult-onset condition (typically associated with pathogenic heterozygous GRM1 variants). Added watchlist_moi tag to monitor for additional childhood-onset cases associated with AD inheritance.Created: 1 Nov 2022, 4:51 p.m. | Last Modified: 1 Nov 2022, 4:51 p.m.
Panel Version: 2.308
Tag watchlist_moi tag was added to gene: GRM1.
Phenotypes for gene: GRM1 were changed from Spinocerebellar ataxia, autosomal recessive 13 to Spinocerebellar ataxia 44, OMIM:617691; Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831
Publications for gene: GRM1 were set to
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: GRM1 was added gene: GRM1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13