1. Genes and Genomic Entities
  2. EFHC1

EFHC1

EF-hand domain containing 1
OMIM: 608815, Gene2Phenotype

3 panels

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

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.195
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green EFHC1 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Epilepsy, juvenile absence, susceptibility to, 1}, 607631
    • {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770