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Severe Paediatric Disorders

Gene: ERLIN2

Green List (high evidence)

ERLIN2 (ER lipid raft associated 2)
EnsemblGeneIds (GRCh38): ENSG00000147475
EnsemblGeneIds (GRCh37): ENSG00000147475
OMIM: 611605, Gene2Phenotype
ERLIN2 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ERLIN2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Spastic paraplegia 18, autosomal recessive, 611225 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 18, autosomal recessive, 611225
OMIM
611605
Clinvar variants
Variants in ERLIN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ERLIN2 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3