1. Genes and Genomic Entities
  2. EMC1

EMC1

ER membrane protein complex subunit 1
OMIM: 616846, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber EMC1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
Green EMC1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
    • Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic
    • Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic
    Green EMC1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    • Literature
    • Expert Review
    Phenotypes
    • Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
    Red EMC1 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • No OMIM disease ID