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  2. Hereditary Spastic Paraplegia - adult onset
  3. RTN2
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Hereditary Spastic Paraplegia - adult onset

Gene: RTN2

Green List (high evidence)
RTN2 (reticulon 2)
EnsemblGeneIds (GRCh38): ENSG00000125744
EnsemblGeneIds (GRCh37): ENSG00000125744
OMIM: 603183, Gene2Phenotype
RTN2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported. Variable age of onset from childhood to early adulthood.
Sources: Expert list
Created: 12 Jun 2020, 1:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 12, autosomal dominant, MIM# 604805

Publications

Created: 12 Jun 2020, 1:18 a.m.

Panel version: Imported from Hereditary Spastic Paraplegia - paediatric panel version 0.98

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 12, autosomal dominant, 604805
  • MONDO:0011489
OMIM
603183
Clinvar variants
Variants in RTN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rtn2 has been classified as Green List (High Evidence).

16 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, 604805 to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489

16 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RTN2 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: RTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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: RTN2 was added gene: RTN2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant, 604805