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Genetic Epilepsy

Gene: RBFOX1

Green List (high evidence)

RBFOX1 (RNA binding fox-1 homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000078328
EnsemblGeneIds (GRCh37): ENSG00000078328
OMIM: 605104, Gene2Phenotype
RBFOX1 is in 3 panels

1 review

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 37962958
De novo missense variants identified in six unrelated patients with neurodevelopmental disorder and severe seizures.
Sources: Literature
Created: 7 Dec 2023, 6:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related
OMIM
605104
Clinvar variants
Variants in RBFOX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbfox1 has been classified as Green List (High Evidence).

18 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbfox1 has been classified as Green List (High Evidence).

7 Dec 2023, Gel status: 0

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

Dean Phelan (Victorian Clinical Genetics Services)

gene: RBFOX1 was added gene: RBFOX1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: RBFOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBFOX1 were set to PMID: 37962958 Phenotypes for gene: RBFOX1 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related Review for gene: RBFOX1 was set to GREEN