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Repeat Disorders

STR: HFGS_tract1

Green List (high evidence)
Chromosome: 7
GRCh37 Position: 27239538-27239585
GRCh38 Position: 27199919-27199966
Repeated Sequence: GCN
Normal Number of Repeats: < 16
Pathogenic Number of Repeats: = or > 22

HOXA13 (homeobox A13)
EnsemblGeneIds (GRCh38): ENSG00000106031
EnsemblGeneIds (GRCh37): ENSG00000106031
OMIM: 142959, Gene2Phenotype
HOXA13 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_000522.5(HOXA13):c.126_128[X]
Expected mechanism of disease is a polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein
PolyAla tract 1 of the 3 N-terminal polyAla tracts
Normal repeat number: 14-16
Pathogenic repeat number: 22
Sources: Expert list
Created: 20 Jun 2021, 2:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hand-foot-uterus syndrome MIM#140000

Publications

Clinically Relevant

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

Created: 20 Jun 2021, 2:10 a.m.

Panel version: 0.25

Details

Name
HFGS_tract1
Chromosome
7
GRCh37 Coordinates
27239538-27239585
GRCh38 Coordinates
27199919-27199966
Repeated Sequence
GCN
Normal Number of Repeats: <
16
Pathogenic Number of Repeats: = or >
22
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hand-foot-uterus syndrome MIM#140000
Tags
paediatric-onset
OMIM
142959
Clinvar variants
Variants in HOXA13
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: HFGS_tract1.

20 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: hfgs_tract1 has been classified as Green List (High Evidence).

20 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: hfgs_tract1 has been classified as Green List (High Evidence).

20 Jun 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: HFGS_tract1 was added STR: HFGS_tract1 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: HFGS_tract1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HFGS_tract1 were set to 10839976; 12073020; 33811808 Phenotypes for STR: HFGS_tract1 were set to Hand-foot-uterus syndrome MIM#140000 Review for STR: HFGS_tract1 was set to GREEN STR: HFGS_tract1 was marked as clinically relevant