1. Panels
  2. Hereditary Spastic Paraplegia - paediatric
  3. VPS37A
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Spastic Paraplegia - paediatric

Gene: VPS37A

Amber List (moderate evidence)
VPS37A (VPS37A, ESCRT-I subunit)
EnsemblGeneIds (GRCh38): ENSG00000155975
EnsemblGeneIds (GRCh37): ENSG00000155975
OMIM: 609927, Gene2Phenotype
VPS37A is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families with same homozygous variant and a zebrafish model.
Created: 20 Sep 2020, 7:32 a.m. | Last Modified: 20 Sep 2020, 7:32 a.m.
Panel Version: 0.148

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 53, autosomal recessive, MIM# 614898

Publications

Created: 20 Sep 2020, 7:32 a.m.
Last Modified: 20 Sep 2020, 7:32 a.m.
Panel version: 0.148

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR
OMIM
609927
Clinvar variants
Variants in VPS37A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps37a has been classified as Amber List (Moderate Evidence).

20 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VPS37A were changed from Spastic paraplegia 53, autosomal recessive; Spastic paraplegia 53, autosomal recessive, 614898, AR to Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR

20 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps37a has been classified as Amber List (Moderate Evidence).

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: VPS37A was added gene: VPS37A was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS37A were set to 22717650 Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive; Spastic paraplegia 53, autosomal recessive, 614898, AR