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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. EMC1
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: EMC1

Amber List (moderate evidence)
EMC1 (ER membrane protein complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000127463
EnsemblGeneIds (GRCh37): ENSG00000127463
OMIM: 616846, Gene2Phenotype
EMC1 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Only been reported with RP in 2 Saudi cases. Otherwise, it causes cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy (PMID: 29271071).
Created: 7 Feb 2020, 10:32 a.m. | Last Modified: 7 Feb 2020, 10:32 a.m.
Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa

Publications

Created: 7 Feb 2020, 10:32 a.m.
Last Modified: 7 Feb 2020, 10:32 a.m.
Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
Phenotypes
  • ?Retinitis pigmentosa
  • Cerebellar atrophy, visual impairment, and psychomotor retardation
OMIM
616846
Clinvar variants
Variants in EMC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: EMC1 was added gene: EMC1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: EMC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMC1 were set to 29271071; 23105016 Phenotypes for gene: EMC1 were set to ?Retinitis pigmentosa; Cerebellar atrophy, visual impairment, and psychomotor retardation