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Mendeliome

Gene: VIM

Green List (high evidence)

VIM (vimentin)
EnsemblGeneIds (GRCh38): ENSG00000026025
EnsemblGeneIds (GRCh37): ENSG00000026025
OMIM: 193060, Gene2Phenotype
VIM is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are linked to development of cataract.

PMID 32066935 proposes a novel association with a premature ageing syndrome.
Created: 2 Nov 2020, 4:51 a.m. | Last Modified: 2 Nov 2020, 4:51 a.m.
Panel Version: 0.5246

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 30, pulverulent 116300

Publications

Ee Ming Wong (Victorian Clinical Genetics Services)

Red List (low evidence)

- 1 affected individual carrying a de novo heterozygous missense variant
- Variant affected vementin turnover and its ability to form filaments in the absence of WT protein in patient-derived and transfected cells
- Overexpression of variant in zebrafish larvae impaired craniofacial development, peripheral axon branching, and fat distribution
Created: 2 Nov 2020, 4:32 a.m. | Last Modified: 2 Nov 2020, 4:32 a.m.
Panel Version: 0.5244

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
frontonasal dysostosis; premature aging

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 30, pulverulent 116300
  • frontonasal dysostosis and premature aging
OMIM
193060
Clinvar variants
Variants in VIM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VIM were changed from to Cataract 30, pulverulent 116300; frontonasal dysostosis and premature aging

2 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VIM were set to

2 Nov 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: VIM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VIM was added gene: VIM was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VIM was set to Unknown