Malformations of cortical development

Gene: ARFGEF2

Green List (high evidence)

ARFGEF2 (ADP ribosylation factor guanine nucleotide exchange factor 2)
EnsemblGeneIds (GRCh38): ENSG00000124198
EnsemblGeneIds (GRCh37): ENSG00000124198
OMIM: 605371, Gene2Phenotype
ARFGEF2 is in 5 panels

1 review

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Periventricular nodular heterotopia

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Periventricular nodular heterotopia
OMIM
605371
Clinvar variants
Variants in ARFGEF2
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

ARFGEF2 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

8 Dec 2016, Gel status: 0

Added New Source

Usha Kini (Oxford Centre for Genomic Medicine)

ARFGEF2 was added to Malformations of cortical developmentpanel. Sources: Expert Review

8 Dec 2016, Gel status: 0

Created

Usha Kini (Oxford Centre for Genomic Medicine)

ARFGEF2 was created by Ushak