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  2. Atrial Fibrillation
  3. SHOX2
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Atrial Fibrillation

Gene: SHOX2

Red List (low evidence)
SHOX2 (short stature homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000168779
EnsemblGeneIds (GRCh37): ENSG00000168779
OMIM: 602504, Gene2Phenotype
SHOX2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with LoF in this gene and AF.
Sources: Expert Review
Created: 2 Sep 2021, 7:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sinus Node Dysfunction; Atrial Fibrillation

Publications

Created: 2 Sep 2021, 7:52 a.m.

Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Sinus Node Dysfunction
  • Atrial Fibrillation
OMIM
602504
Clinvar variants
Variants in SHOX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shox2 has been classified as Red List (Low Evidence).

2 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SHOX2 was added gene: SHOX2 was added to Atrial Fibrillation. Sources: Expert Review Mode of inheritance for gene: SHOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHOX2 were set to 30443179 Phenotypes for gene: SHOX2 were set to Sinus Node Dysfunction; Atrial Fibrillation Review for gene: SHOX2 was set to RED