Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: ARFGEF1

Amber List (moderate evidence)

ARFGEF1 (ADP ribosylation factor guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000066777
EnsemblGeneIds (GRCh37): ENSG00000066777
OMIM: 604141, Gene2Phenotype
ARFGEF1 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (probable) but not in OMIM. There are >3 unrelated cases. ID in patients ranged from mild to moderate, which does not satisfy the criteria for this panel (moderate to severe); however, as this is one of the presenting features this gene has will be recommended to be Green at the next review.
Created: 20 Oct 2021, 10:53 a.m. | Last Modified: 20 Oct 2021, 10:53 a.m.
Panel Version: 3.1375

Zornitza Stark (Australian Genomics)

Green List (high evidence)

13 individuals reported with variants in this gene and a neurodevelopmental disorder characterised by variable ID, seizures present in around half. Variants were inherited from mildly affected parents in 40% of families.
Sources: Literature
Created: 11 Oct 2021, 7:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; Epilepsy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability, MONDO:0001071
  • Epilepsy, MONDO:0005027
Tags
Q4_21_rating
OMIM
604141
Clinvar variants
Variants in ARFGEF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ARFGEF1 were changed from Intellectual disability; Epilepsy to Intellectual disability, MONDO:0001071; Epilepsy, MONDO:0005027

20 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: arfgef1 has been classified as Amber List (Moderate Evidence).

20 Oct 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: ARFGEF1.

11 Oct 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ARFGEF1 was added gene: ARFGEF1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ARFGEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARFGEF1 were set to 34113008 Phenotypes for gene: ARFGEF1 were set to Intellectual disability; Epilepsy Review for gene: ARFGEF1 was set to GREEN