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Mendeliome

Gene: ARFGEF3

Amber List (moderate evidence)

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

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

An NMD-predicted variant has been seen in an unaffected mother (VCGS internal cohort).
Several NMD predicted variants in gnomAD (v2 and v3).
No additional reports of this gene disease association or functional studies found in pubmed.
Created: 10 May 2023, 12:04 a.m. | Last Modified: 10 May 2023, 12:04 a.m.
Panel Version: 1.877

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia

Variants in this GENE are reported as part of current diagnostic practice

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, 2:11 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia

Publications

Details

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

History Filter Activity

27 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arfgef3 has been classified as Amber List (Moderate Evidence).

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 Mendeliome. 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