1. Panels
  2. Hereditary Spastic Paraplegia - adult onset
  3. ERLIN2
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Spastic Paraplegia - adult onset

Gene: ERLIN2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

B-allelic variants: early onset complex HSP, including ID and contractures. Mono-allelic variants reported with isolated HSP, variable age of onset.
Sources: Expert list
Created: 18 Apr 2020, 7:19 a.m. | Last Modified: 16 Mar 2021, 4:28 a.m.
Panel Version: 0.70

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Created: 18 Apr 2020, 7:19 a.m.
Last Modified: 16 Mar 2021, 4:28 a.m.
Panel version: 1.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 18, autosomal recessive, MIM# 611225
  • Spastic paraplegia 18A, autosomal dominant, MIM# 620512
OMIM
611605
Clinvar variants
Variants in ERLIN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225; MONDO:0012639 to Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia 18A, autosomal dominant, MIM# 620512

16 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225 to Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225; MONDO:0012639

16 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: erlin2 has been classified as Green List (High Evidence).

16 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ERLIN2 were set to

16 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ERLIN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ERLIN2 was added gene: ERLIN2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ERLIN2 were set to Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225