Hand and foot malformations
Gene: SMC3

SMC3 (structural maintenance of chromosomes 3)
EnsemblGeneIds (GRCh38): ENSG00000108055
EnsemblGeneIds (GRCh37): ENSG00000108055
OMIM: 606062, Gene2Phenotype
SMC3 is in 13 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Unknown mechanism - Evidence for GOF (PMID: 18996922) where variant had increased DNA binding affinity, but dominant negative has also been suggested due to the mutational spectrum (PMID: 25655089).

Only two PTCs reported. pLI score suggests LOF as a mechanism (Decipher, PMID: 31334757).
Created: 16 Jul 2020, 6:49 a.m. | Last Modified: 16 Jul 2020, 6:49 a.m.

Panel Version: 0.3368

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

Phenotypes
ornelia de Lange syndrome 3, 610759

Publications

Mode of pathogenicity
Other

Created: 16 Jul 2020, 6:49 a.m.
Last Modified: 16 Jul 2020, 6:49 a.m.
Panel version: Imported from Mendeliome panel version 0.3368

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert list
Expert Review Green

Phenotypes

Cornelia de Lange syndrome 3 610759

OMIM

606062

Clinvar variants

Variants in SMC3

Penetrance

None

Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SMC3 was added gene: SMC3 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3 610759

Hand and foot malformations Gene: SMC3