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  2. Intellectual disability syndromic and non-syndromic
  3. VPS37A
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Intellectual disability syndromic and non-syndromic

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

Chirag Patel (Genetic Health Queensland)

I don't know

Comment on list classification: r/v with Z.Stark - 2 families with functional data.
Created: 5 Dec 2019, 3:36 a.m. | Last Modified: 5 Dec 2019, 3:36 a.m.
Panel Version: 0.470
ID reported in this type of HSP in 2 families.

Zivony-Elboum et al. (2012) reported 9 patients from 2 Arab Moslem families with early-onset spastic paraplegia. Affected individuals showed developmental and motor delay during the first 2 years of life. They had unsteadiness in standing and difficulty walking. All affected children presented with spasticity in the lower limbs that progressed to the upper extremities. All had mild to moderate cognitive and speech delay. Functional studied performed.
Created: 4 Dec 2019, 10:43 p.m. | Last Modified: 4 Dec 2019, 11:39 p.m.
Panel Version: 0.394

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 53, autosomal recessive; OMIM #614898

Publications

Created: 4 Dec 2019, 10:43 p.m.
Last Modified: 4 Dec 2019, 11:39 p.m.
Panel version: 0.365

Details

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

History Filter Activity

12 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

12 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps37a has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: vps37a has been classified as Green List (High Evidence).

4 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

4 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from VPS37A. Source Expert list was added to VPS37A. Mode of inheritance for gene VPS37A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS37A were changed from to Spastic paraplegia 53, autosomal recessive; OMIM #614898 Publications for gene VPS37A were changed from PMID: 22717650 to PMID: 22717650

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS37A was added gene: VPS37A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS37A was set to Unknown