Bilateral congenital or childhood onset cataracts
Gene: VIMEnsemblGeneIds (GRCh38): ENSG00000026025
EnsemblGeneIds (GRCh37): ENSG00000026025
OMIM: 193060, Gene2Phenotype
VIM is in 4 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)
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)
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
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."
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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."
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."
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."
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for VIM was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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.
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()VIM was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen