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Intellectual disability

Gene: ARFGEF1

Green List (high evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.
Panel Version: 3.1519

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 Green
Phenotypes
  • Intellectual disability, MONDO:0001071
  • Epilepsy, MONDO:0005027
Tags
gene-checked
OMIM
604141
Clinvar variants
Variants in ARFGEF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: ARFGEF1.

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating was removed from gene: ARFGEF1.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ARFGEF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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