1. Genes and Genomic Entities
  2. EMC1

EMC1

ER membrane protein complex subunit 1
OMIM: 616846, Gene2Phenotype

5 panels

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


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Green EMC1 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • No OMIM disease ID
    Green EMC1 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875