Dystonia - isolated/combined
Gene: ARFGEF3
Internal observation of unaffected individual with NMD-predicted variant. Also note LoF variants in gnomad.Created: 27 Feb 2025, 5:21 a.m. | Last Modified: 27 Feb 2025, 5:21 a.m.
Panel Version: 1.37
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
3 x unrelated individuals
1 x de novo missense variant: c.6212T>C p.Met2071Thr, phenotype: infancy-onset generalized dystonia (isolated)
1x stop-gain variant c.1773T>G p.Tyr591* inherited from mosaic mother), phenotype: infancy-onset generalized dystonia (isolated)
1 x de novo missense variant (Gene Matcher) c.250A>C p.Met84Leu childhood-onset generalized dystonia (isolated)
Sources: LiteratureCreated: 16 Jul 2021, 2:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia
Publications
Gene: arfgef3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ARFGEF3 were changed from Dystonia to Dystonia, MONDO:0044807, ARFGEF3-related
Gene: arfgef3 has been classified as Green List (High Evidence).
Gene: arfgef3 has been classified as Green List (High Evidence).
gene: ARFGEF3 was added gene: ARFGEF3 was added to Dystonia - isolated/combined. Sources: Literature Mode of inheritance for gene: ARFGEF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARFGEF3 were set to PMID: 33098801 Phenotypes for gene: ARFGEF3 were set to Dystonia Review for gene: ARFGEF3 was set to GREEN