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  3. VPS4A
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Red cell disorders

Gene: VPS4A

Green List (high evidence)
VPS4A (vacuolar protein sorting 4 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000132612
EnsemblGeneIds (GRCh37): ENSG00000132612
OMIM: 609982, Gene2Phenotype
VPS4A is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

6 of 9 reported individuals had anaemia as part of a syndromic neurodevelopmental disorder.
Sources: Literature
Created: 7 Dec 2020, 7:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CIMDAG syndrome MIM# 619273

Publications

Mode of pathogenicity
Other

Created: 7 Dec 2020, 7:47 a.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CIMDAG syndrome MIM# 619273
OMIM
609982
Clinvar variants
Variants in VPS4A
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

26 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VPS4A were changed from syndromic congenital dyserythropoietic anaemia to CIMDAG syndrome MIM# 619273

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps4a has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps4a has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS4A was added gene: VPS4A was added to Rare anaemia_GEL. Sources: Literature Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VPS4A were set to 33186543; 33186545 Phenotypes for gene: VPS4A were set to syndromic congenital dyserythropoietic anaemia Mode of pathogenicity for gene: VPS4A was set to Other Review for gene: VPS4A was set to GREEN