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Growth failure

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

Danielle Ariti (University of Melbourne)

Red List (low evidence)

SHOX2 recently linked to Sinus Node Dysfunction and Atrial Fibrillation (2016).
One AF patient was reported with shorter stature but no other record of growth failure amongst these individuals; no other individuals have been reported with SHOX2 variants associated with growth failure disorders.

Speculation of growth failure derived from over 5 mouse models; Shox2 knockout mouse models have showed crucial functions during embryonic development, including limb skeletogenesis, palatogenesis, temporomandibular joint formation, and cardiovascular development.
Created: 2 Sep 2021, 12:45 a.m. | Last Modified: 2 Sep 2021, 12:45 a.m.
Panel Version: 0.381

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Linked to Sinus Node Dysfunction; Linked to Atrial Fibrillation

Publications

Created: 2 Sep 2021, 12:45 a.m.
Last Modified: 2 Sep 2021, 12:45 a.m.
Panel version: 0.381

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
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

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SHOX2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SHOX2 were changed from to Sinus Node Dysfunction; Atrial Fibrillation

2 Sep 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SHOX2 were set to

2 Sep 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SHOX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

19 Jul 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SHOX2 was added gene: SHOX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: SHOX2 was set to Unknown