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  2. Dystonia - isolated/combined
  3. ARFGEF3
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Dystonia - isolated/combined

Gene: ARFGEF3

Green List (high evidence)
ARFGEF3 (ARFGEF family member 3)
EnsemblGeneIds (GRCh38): ENSG00000112379
EnsemblGeneIds (GRCh37): ENSG00000112379
OMIM: 617411, Gene2Phenotype
ARFGEF3 is in 2 panels

1 review

Laura Raiti (Royal Children's Hospital, Melbourne)

Green List (high evidence)

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: Literature
Created: 16 Jul 2021, 2:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia

Publications

Created: 16 Jul 2021, 2:09 p.m.

Panel version: 1.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Dystonia, MONDO:0044807, ARFGEF3-related
OMIM
617411
Clinvar variants
Variants in ARFGEF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARFGEF3 were changed from Dystonia to Dystonia, MONDO:0044807, ARFGEF3-related

17 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arfgef3 has been classified as Green List (High Evidence).

17 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arfgef3 has been classified as Green List (High Evidence).

16 Jul 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Laura Raiti (Royal Children's Hospital, Melbourne)

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