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Intellectual disability

Gene: EFHC1

Red List (low evidence)

EFHC1 (EF-hand domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000096093
EnsemblGeneIds (GRCh37): ENSG00000096093
OMIM: 608815, Gene2Phenotype
EFHC1 is in 3 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Not associated with ID in OMIM or Gene2Phenotype. Epilepsy-related gene. PMID: 28475290 includes a proband with mild-moderate ID with a de novo variant in EFHC1. Also have as 1q21.1 duplication, heterozygous variants in NOS1 and ATF6 from his father. Not enough evidence for ID causation found.
Created: 27 Oct 2017, 2:46 p.m.

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_epilepsies . Main mutation mechanism : NA
Created: 27 Jul 2017, 5:37 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_epilepsies; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:20 p.m.

Mode of inheritance
Unknown

Publications

  • omim.org

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 11:42 a.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert Review Amber
Phenotypes
  • {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
  • {Epilepsy, juvenile absence, susceptibility to, 1}, 607631
OMIM
608815
Clinvar variants
Variants in EFHC1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Red was added to EFHC1. Panel: Intellectual disability Publications for gene EFHC1 was set to ['28475290']

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

EFHC1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

EFHC1 was created by BRIDGE