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  2. Genetic Epilepsy
  3. AFDN
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Genetic Epilepsy

Gene: AFDN

Red List (low evidence)
AFDN (afadin, adherens junction formation factor)
EnsemblGeneIds (GRCh38): ENSG00000130396
EnsemblGeneIds (GRCh37): ENSG00000130396
OMIM: 159559, Gene2Phenotype
AFDN is in 3 panels

1 review

John Coleman (Murdoch Children's Research Institute)

Red List (low evidence)

Limited information regarding this gene. 1 published case with epilepsy reported on clinvar however this is part of a CNV deletion involving multiple other genes at the locus. No neurological phenotype reported apart from a gene as part of larger CNV changes at the locus (terminal 6q deletions) with multiple other genes implicated. Clinical phenotype not on ClinGen, No neurological phenotype reported on OMIM. Pubmed and other literature search returns no results for "AFDN" and "seizures", "seizure" or "AFDN" and "epilepsy". Not included on other testing panels (panelapp UK). Previous cytogenetic and animal models suggested implication in T6,11 with MLL.
Sources: Literature
Created: 4 Dec 2023, 1:35 a.m.

Mode of inheritance
Unknown

Publications

Created: 4 Dec 2023, 1:35 a.m.

Panel version: 0.1950

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Epilepsy, MONDO:0015653
Tags
SV/CNV
OMIM
159559
Clinvar variants
Variants in AFDN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AFDN were changed from to Epilepsy, MONDO:0015653

4 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: afdn has been classified as Red List (Low Evidence).

4 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: afdn has been classified as Red List (Low Evidence).

4 Dec 2023, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: AFDN.

4 Dec 2023, Gel status: 0

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

John Coleman (Murdoch Children's Research Institute)

gene: AFDN was added gene: AFDN was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: AFDN was set to Unknown Publications for gene: AFDN were set to (PMID: 31690835; 9679199) Review for gene: AFDN was set to RED