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Genetic Epilepsy

Gene: EFHC1

Red List (low evidence)
EFHC1 (EF-hand domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000096093
EnsemblGeneIds (GRCh37): ENSG00000096093
OMIM: 608815, Gene2Phenotype
EFHC1 is in 4 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified as REFUTED by ClinGen Epilepsy GCEP on 05/09/2023

"All existing genetic evidence has been ruled out--all variants are found in gnomAD at high allele frequencies or do not have convincing segregation or functional evidence to support this gene-disease relationship. Additionally, functional studies do not provide a consistent mechanism of disease and a recent study determined that the frequency of ultra rare variants in EFHC1 did not differ between patients and controls (PMID: 31056551)."

Source: ClinGen - https://search.clinicalgenome.org/CCID:004730
Created: 21 Apr 2024, 11:37 p.m. | Last Modified: 21 Apr 2024, 11:37 p.m.
Panel Version: 0.2599

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
epilepsy MONDO:0005027

Publications

  • PMID: 31056551
  • https://search.clinicalgenome.org/CCID:004730

Created: 21 Apr 2024, 11:37 p.m.
Last Modified: 21 Apr 2024, 11:37 p.m.
Panel version: 0.2599

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: ClinGen Epilepsy GCEP gene-disease association curation: Disputed - We have disregarded the very limited functional evidence in light of the complete lack of genetic evidence connecting EFHC1 and epilepsy. In summary, there is convincing evidence disputing the association between EFHC1 and epilepsy. All variants in EFHC1 associated with epilepsy have contradictory evidence for disease association (too common in ExAC/gnomAD, with minor allele frequencies (MAF) of 2.857e-5 to 0.05973). More evidence is needed to either support or refute the role EFHC1 plays in this disease. Classification - 07/27/2018, reviewed Sept 2021
Created: 11 Nov 2021, 7:36 a.m. | Last Modified: 11 Nov 2021, 7:36 a.m.
Panel Version: 0.1386
Created: 11 Nov 2021, 7:36 a.m.
Last Modified: 11 Nov 2021, 7:36 a.m.
Panel version: 0.1386

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

May be a susceptibility locus rather than true Mendelian disorder; some conflicting evidence regarding association with various epilepsy phenotypes.
Created: 22 Jan 2020, 7:17 a.m. | Last Modified: 22 Jan 2020, 7:17 a.m.
Panel Version: 0.253

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770

Publications

Created: 22 Jan 2020, 7:17 a.m.
Last Modified: 22 Jan 2020, 7:17 a.m.
Panel version: 0.1322

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • {Epilepsy, juvenile absence, susceptibility to, 1}, 607631
  • {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Tags
refuted
OMIM
608815
Clinvar variants
Variants in EFHC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2024, Gel status: 1

Removed Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed was removed from gene: EFHC1. Tag refuted tag was added to gene: EFHC1.

11 Nov 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: EFHC1.

11 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: efhc1 has been classified as Red List (Low Evidence).

18 Oct 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EFHC1 were set to 31056551; 28370826; 29750216

22 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EFHC1 were changed from {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770

22 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EFHC1 were changed from {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770

22 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: efhc1 has been classified as Amber List (Moderate Evidence).

22 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EFHC1 were changed from to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770

22 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EFHC1 were set to 31056551; 28370826; 29750216

22 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EFHC1 were set to

22 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EFHC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: efhc1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EFHC1 was added gene: EFHC1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EFHC1 was set to Unknown