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Mendeliome

Gene: SMC3

Green List (high evidence)

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Study reporting 14 cases with LoF variants in SMC3 with variable phenotypes reminiscent of atypical CdLS, overall milder phenotype than reported pathogenic missense/in-frame indel variants.
Created: 8 Feb 2024, 10:35 p.m. | Last Modified: 8 Feb 2024, 10:35 p.m.
Panel Version: 1.1528

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome MONDO:0016033

Publications

Variants in this GENE are reported as part of current diagnostic practice

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cornelia de Lange syndrome 3, MIM#610759
OMIM
606062
Clinvar variants
Variants in SMC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMC3 were set to 18996922; 25655089; 31334757

16 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smc3 has been classified as Green List (High Evidence).

16 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMC3 were changed from to Cornelia de Lange syndrome 3, MIM#610759

16 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMC3 were set to

16 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SMC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMC3 was added gene: SMC3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMC3 was set to Unknown