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Genetic Epilepsy

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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: Expert Review
Created: 26 Sep 2021, 8:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964
OMIM
604141
Clinvar variants
Variants in ARFGEF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARFGEF1 were changed from Intellectual disability; Epilepsy to Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964

26 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arfgef1 has been classified as Green List (High Evidence).

26 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arfgef1 has been classified as Green List (High Evidence).

26 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARFGEF1 was added gene: ARFGEF1 was added to Genetic Epilepsy. Sources: Expert Review 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