Childhood onset dystonia, chorea or related movement disorder
Gene: ARFGEF3No phenotype in OMIM. Checked that the publication PMID:33098801 mentions this gene in the supplementary material (page 55) and the 3 cases reported by Zornitza Stark. Adding the gene-checked tag.Created: 16 Oct 2023, 3:53 p.m. | Last Modified: 16 Oct 2023, 3:54 p.m.
Panel Version: 3.50
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 9:18 a.m. | Last Modified: 11 Oct 2023, 9:18 a.m.
Panel Version: 3.50
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: As reviewed by Zornitza Stark, there are three unrelated cases with monoallelic variants in this gene and with childhood-onset dystonia. Hence, this gene can be promoted to GREEN at the next major update.Created: 17 May 2023, 2:40 p.m. | Last Modified: 17 May 2023, 2:40 p.m.
Panel Version: 3.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
early-onset generalized dystonia, MONDO:0100016
Publications
3 unrelated individuals reported with variants in this gene and dystonia:
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: 7 Aug 2021, 1:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag gene-checked tag was added to gene: ARFGEF3.
Tag Q2_23_promote_green was removed from gene: ARFGEF3.
Source NHS GMS was added to ARFGEF3. Source Expert Review Green was added to ARFGEF3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: ARFGEF3.
Gene: arfgef3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ARFGEF3 were changed from Dystonia to early-onset generalized dystonia, MONDO:0100016
gene: ARFGEF3 was added gene: ARFGEF3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: ARFGEF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARFGEF3 were set to 33098801 Phenotypes for gene: ARFGEF3 were set to Dystonia Review for gene: ARFGEF3 was set to GREEN gene: ARFGEF3 was marked as current diagnostic