1. Genes and Genomic Entities
  2. EFHC1

EFHC1

EF-hand domain containing 1
OMIM: 608815, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber EFHC1 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.125
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Expert list
    • Literature
    Phenotypes
    • {Epilepsy, juvenile absence, susceptibility to, 1} 607631
    • {Myoclonic epilepsy, juvenile, susceptibility to, 1} 254770
    Red EFHC1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
    • {Epilepsy, juvenile absence, susceptibility to, 1}, 607631