PanelApp
  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

Green EMC1 in Mendeliome


Version 1.3512

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875

Green EMC1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, EMC1-related

    Green EMC1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875

    Amber EMC1 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.182

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Amber
    Phenotypes
    • ?Retinitis pigmentosa
    • Cerebellar atrophy, visual impairment, and psychomotor retardation

    Green EMC1 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875