1. Panels
  2. Cerebral Palsy
  3. ERLIN2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Cerebral Palsy

Gene: ERLIN2

Red List (low evidence)
ERLIN2 (ER lipid raft associated 2)
EnsemblGeneIds (GRCh38): ENSG00000147475
EnsemblGeneIds (GRCh37): ENSG00000147475
OMIM: 611605, Gene2Phenotype
ERLIN2 is in 6 panels

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

Single individual with homozygous frameshift insertion in ERLIN2 described in WGS study of clinically confirmed CP (PMID: 38553553). Both monoallelic and biallelic variants have been reported to cause hereditary spastic paraplegia.
Sources: Literature
Created: 27 Jun 2024, 3:34 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 18A, autosomal dominant, MIM#620512; Spastic paraplegia 18B, autosomal recessive, MIM#611225

Publications

Created: 27 Jun 2024, 3:34 a.m.

Panel version: 1.348

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 18A, autosomal dominant, MIM#620512
  • Spastic paraplegia 18B, autosomal recessive, MIM#611225
OMIM
611605
Clinvar variants
Variants in ERLIN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: erlin2 has been classified as Red List (Low Evidence).

24 Jul 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: erlin2 has been classified as Red List (Low Evidence).

27 Jun 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: ERLIN2 was added gene: ERLIN2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ERLIN2 were set to PMID: 38553553 Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18A, autosomal dominant, MIM#620512; Spastic paraplegia 18B, autosomal recessive, MIM#611225 Review for gene: ERLIN2 was set to RED