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STRs in panel
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Skeletal dysplasia

Gene: LEFTY2

Red List (low evidence)

LEFTY2 (left-right determination factor 2)
EnsemblGeneIds (GRCh38): ENSG00000143768
EnsemblGeneIds (GRCh37): ENSG00000143768
OMIM: 601877, Gene2Phenotype
LEFTY2 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: No reports since 1999.
Created: 28 Sep 2021, 2:12 a.m. | Last Modified: 28 Sep 2021, 2:12 a.m.
Panel Version: 0.9260

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 10518210 - K/O mice show expansion of the primitive streak and excess formation of mesoderm, embryonic lethal. Heterozygous K/O mice were normal.

PMID: 10053005 - 1 nonsense (PTV) and 1 missense in 2 patients with LR axis malformations. Reclassified as VUS, no functional studies.

gnomAD pLI = 1, few PTCs in the population, max 3 hets
Created: 22 Sep 2021, 2:33 a.m. | Last Modified: 22 Sep 2021, 2:33 a.m.
Panel Version: 0.9203

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Heterotaxy

Publications

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
OMIM
601877
Clinvar variants
Variants in LEFTY2
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LEFTY2 was added gene: LEFTY2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: LEFTY2 was set to