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Repeat Disorders

STR: HMNMYO

Green List (high evidence)
Chromosome: 1
GRCh37 Position: 1371179-1371198
GRCh38 Position: 1435799-1435818
Repeated Sequence: GCGCGGAGCG
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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_022834.5(VWA1):c.62_71GCGCGGAGCG[X]
10-bp repeat expansion leading to a loss of function allele, was observed in 14/15 families and was homozygous in 10/15 with a recessive hereditary motor neuropathy.
Normal: 2 repeats
Pathogenic: >=3 repeats (currently only 3 repeats reported)
Sources: Literature
Created: 17 Aug 2021, 12:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary motor, with myopathic features MIM#619216

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 17 Aug 2021, 12:28 a.m.

Panel version: 0.62

Details

Name
HMNMYO
Chromosome
1
GRCh37 Coordinates
1371179-1371198
GRCh38 Coordinates
1435799-1435818
Repeated Sequence
GCGCGGAGCG
Normal Number of Repeats: <
2
Pathogenic Number of Repeats: = or >
3
Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuropathy, hereditary motor, with myopathic features MIM#619216
Tags
paediatric-onset
OMIM
611901
Clinvar variants
Variants in VWA1
Penetrance
None
Publications

History Filter Activity

1 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag paediatric-onset tag was added to STR: HMNMYO.

17 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: hmnmyo has been classified as Green List (High Evidence).

17 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: hmnmyo has been classified as Green List (High Evidence).

17 Aug 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: HMNMYO was added STR: HMNMYO was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: HMNMYO was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: HMNMYO were set to 33559681; 33459760 Phenotypes for STR: HMNMYO were set to Neuropathy, hereditary motor, with myopathic features MIM#619216 Review for STR: HMNMYO was set to GREEN STR: HMNMYO was marked as clinically relevant