Hereditary Spastic Paraplegia - paediatric
Gene: ERLIN1

ERLIN1 (ER lipid raft associated 1)
EnsemblGeneIds (GRCh38): ENSG00000107566
EnsemblGeneIds (GRCh37): ENSG00000107566
OMIM: 611604, Gene2Phenotype
ERLIN1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three unrelated families with a complicated HSP phenotype.
Created: 19 Apr 2020, 9:44 a.m. | Last Modified: 19 Apr 2020, 9:44 a.m.

Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 62 MIM#615681

Publications

24482476

Created: 19 Apr 2020, 9:44 a.m.
Last Modified: 19 Apr 2020, 9:44 a.m.
Panel version: 0.65

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Spastic paraplegia 62, 615681
Hereditary spastic paraplegia

OMIM

611604

Clinvar variants

Variants in ERLIN1

Penetrance

None

Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: erlin1 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ERLIN1 was added gene: ERLIN1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERLIN1 were set to Spastic paraplegia 62, 615681; Hereditary spastic paraplegia

Hereditary Spastic Paraplegia - paediatric Gene: ERLIN1