1. Panels
  2. Hereditary neuropathy or pain disorder
  3. VWA1_GGCGCGGAGC
Genes in panel
Prev Next

Hereditary neuropathy or pain disorder

STR: VWA1_GGCGCGGAGC

Red List (low evidence)
Chromosome: 1
GRCh38 Position: 1435798-1435818
Repeated Sequence: GGCGCGGAGC
Normal Number of Repeats: < 2
Pathogenic Number of Repeats: = or > 3

VWA1 (von Willebrand factor A domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000179403
EnsemblGeneIds (GRCh37): ENSG00000179403
OMIM: 611901, Gene2Phenotype
VWA1 is in 0 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

VWA1 is transcribed from the forward strand.

VWA1_GGCGCGGAGC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4

VWA1_GGCGCGGAGC is on https://stripy.org/database

VWA1_GGCGCGGAGC is on DRAGON 4.02.

The coordinates of the sequence repeats shown above were the same on the above resources.

The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: https://stripy.org/database and https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4

There is enough evidence for this STR to be green on this panel.

This STR has not been approved by NHS STR working group and is not NGS Not Validated
Sources: Literature
Created: 2 Apr 2025, 3:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216; neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977

Publications

Created: 2 Apr 2025, 3:55 p.m.

Panel version: 6.165

Details

Name
VWA1_GGCGCGGAGC
Chromosome
1
GRCh38 Coordinates
1435798-1435818
Repeated Sequence
GGCGCGGAGC
Normal Number of Repeats: <
2
Pathogenic Number of Repeats: = or >
3
Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216
  • neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977
Tags
STR NGS Not Validated
OMIM
611901
Clinvar variants
Variants in VWA1
Penetrance
None
Publications

History Filter Activity

2 Apr 2025, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag STR tag was added to STR: VWA1_GGCGCGGAGC.

2 Apr 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

STR: VWA1_GGCGCGGAGC was added STR: VWA1_GGCGCGGAGC was added to Hereditary neuropathy or pain disorder. Sources: Literature NGS Not Validated tags were added to STR: VWA1_GGCGCGGAGC. Mode of inheritance for STR: VWA1_GGCGCGGAGC was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: VWA1_GGCGCGGAGC were set to 33559681 Phenotypes for STR: VWA1_GGCGCGGAGC were set to Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216; neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 Review for STR: VWA1_GGCGCGGAGC was set to GREEN