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Cataracts

Gene: VIM

Green List (high evidence)

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

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Two families, one with a de novo mutation; also evidence from a mouse model.
Created: 7 Jun 2016, 1:26 p.m.

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

Only 1 reported case. Mouse model: Bornheim et al (2008) J. Cell Sci., 121, 3737 3746.
Created: 25 May 2016, 8:11 a.m.

Phenotypes
Cataract 30, pulverulent, 116300

Publications

  • Muller et al (2009) Hum Mol Genet 18:1052-1057

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Is on the Manchester congenital cataracts gene panel. Not associated with a disease in G2P, and only one case report in OMIM (as indicated by the ? prior to the disorder).
Created: 29 Apr 2016, 2:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cataract pulverulent, autosomal dominant; ?Cataract 30, pulverulent

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract 30, pulverulent, 116300
OMIM
193060
Clinvar variants
Variants in VIM
Penetrance
Complete
Publications
  • PMID: 26694549
  • PMID: 19126778 Muller et al (2009) Hum Mol Genet 18:1052-1057 - sequencing of the VIM gene in 90 individuals wuth congenital cataract, identified a E151K missense variant in one individual, which functional studies showed disrupted function
  • PMID: 26694549 Ma et al, 2016 - novel likely pathogenic frameshift variant identified in a patient with congenital cataracts p.Val6Cysfs∗26
  • PMID:24142690 - "Here, we generated knock-in mice expressing vimentin that have had the serine sites phosphorylated during mitosis substituted by alanine residues. Homozygotic mice (VIM(SA/SA)) presented with microophthalmia and cataracts in the lens, whereas heterozygotic mice (VIM(WT/SA)) were indistinguishable from WT (VIM(WT/WT)) mice". PMID: 18940912 - Vimentin-/- mice provided no evidence of an involvement of vimentin in the development of a specific disease. They therefore investigate the R113C point mutation in mice "We demonstrate here for the first time that the expression of mutated vimentin induces a protein-stress response that contributes to disease pathology in mice, and hypothesise that vimentin mutations cause cataracts in humans."
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for VIM were set to PMID: 26694549; PMID: 19126778 Muller et al (2009) Hum Mol Genet 18:1052-1057 - sequencing of the VIM gene in 90 individuals wuth congenital cataract, identified a E151K missense variant in one individual, which functional studies showed disrupted function; PMID: 26694549 Ma et al, 2016 - novel likely pathogenic frameshift variant identified in a patient with congenital cataracts p.Val6Cysfs∗26; PMID:24142690 - "Here, we generated knock-in mice expressing vimentin that have had the serine sites phosphorylated during mitosis substituted by alanine residues. Homozygotic mice (VIM(SA/SA)) presented with microophthalmia and cataracts in the lens, whereas heterozygotic mice (VIM(WT/SA)) were indistinguishable from WT (VIM(WT/WT)) mice". PMID: 18940912 - Vimentin-/- mice provided no evidence of an involvement of vimentin in the development of a specific disease. They therefore investigate the R113C point mutation in mice "We demonstrate here for the first time that the expression of mutated vimentin induces a protein-stress response that contributes to disease pathology in mice, and hypothesise that vimentin mutations cause cataracts in humans."

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for VIM were set to PMID: 19126778 Muller et al (2009) Hum Mol Genet 18:1052-1057 - sequencing of the VIM gene in 90 individuals wuth congenital cataract, identified a E151K missense variant in one individual, which functional studies showed disrupted function; PMID: 26694549 Ma et al, 2016 - novel likely pathogenic frameshift variant identified in a patient with congenital cataracts p.Val6Cysfs∗26; PMID:24142690 - "Here, we generated knock-in mice expressing vimentin that have had the serine sites phosphorylated during mitosis substituted by alanine residues. Homozygotic mice (VIM(SA/SA)) presented with microophthalmia and cataracts in the lens, whereas heterozygotic mice (VIM(WT/SA)) were indistinguishable from WT (VIM(WT/WT)) mice". PMID: 18940912 - Vimentin-/- mice provided no evidence of an involvement of vimentin in the development of a specific disease. They therefore investigate the R113C point mutation in mice "We demonstrate here for the first time that the expression of mutated vimentin induces a protein-stress response that contributes to disease pathology in mice, and hypothesise that vimentin mutations cause cataracts in humans."

6 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for VIM were set to PMID: 19126778 Muller et al (2009) Hum Mol Genet 18:1052-1057 - sequencing of the VIM gene in 90 individuals wuth congenital cataract, identified a E151K missense variant in one individual, which functional studies showed disrupted function; PMID: 26694549 Ma et al, 2016 - novel likely pathogenic frameshift variant identified in a patient with congenital cataracts p.Val6Cysfs∗26; PMID:24142690 - Homozygotic mice (VIM(SA/SA)) presented with microophthalmia and cataracts in the lens, whereas heterozygotic mice (VIM(WT/SA)) were indistinguishable from WT (VIM(WT/WT)) mice. PMID: 18940912 - Vimentin-/- mice provided no evidence of an involvement of vimentin in the development of a specific disease. They therefore investigate the R113C point mutation in mice "We demonstrate here for the first time that the expression of mutated vimentin induces a protein-stress response that contributes to disease pathology in mice, and hypothesise that vimentin mutations cause cataracts in humans."

6 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for VIM were set to PMID: 19126778 Muller et al (2009) Hum Mol Genet 18:1052-1057 - sequencing of the VIM gene in 90 individuals wuth congenital cataract, identified a E151K missense variant in one individual, which functional studies showed disrupted function; PMID: 26694549 Ma et al, 2016 - novel likely pathogenic frameshift variant identified in a patient with congenital cataracts p.Val6Cysfs∗26; PMID:24142690 - Homozygotic mice (VIM(SA/SA)) presented with microophthalmia and cataracts in the lens, whereas heterozygotic mice (VIM(WT/SA)) were indistinguishable from WT (VIM(WT/WT)) mice. PMID: 18940912 - Investigate the R113C point mutation in mice "We demonstrate here for the first time that the expression of mutated vimentin induces a protein-stress response that contributes to disease pathology in mice, and hypothesise that vimentin mutations cause cataracts in humans."

6 Jun 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for VIM was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for VIM were set to PMID: 19126778 Muller et al (2009) Hum Mol Genet 18:1052-1057 - sequencing of the VIM gene in 90 individuals wuth congenital cataract, identified a E151K missense variant in one individual, which functional studies showed disrupted function; PMID: 26694549 Ma et al, 2016 - novel likely pathogenic frameshift variant identified in a patient with congenital cataracts p.Val6Cysfs∗26; PMID:24142690 - Homozygotic mice (VIM(SA/SA)) presented with microophthalmia and cataracts in the lens, whereas heterozygotic mice (VIM(WT/SA)) were indistinguishable from WT (VIM(WT/WT)) mice.

6 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for VIM were set to PMID: 19126778 Muller et al (2009) Hum Mol Genet 18:1052-1057 - sequencing of the VIM gene in 90 individuals wuth congenital cataract, identified a E151K missense variant in one individual, which functional studies showed disrupted function; PMID: 26694549 Ma et al, 2016; PMID:24142690 - Homozygotic mice (VIM(SA/SA)) presented with microophthalmia and cataracts in the lens, whereas heterozygotic mice (VIM(WT/SA)) were indistinguishable from WT (VIM(WT/WT)) mice.

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

VIM was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen