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  2. Congenital diaphragmatic hernia
  3. SMC3
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Congenital diaphragmatic hernia

Gene: SMC3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

CDH is a feature of CdL but cannot find specific reports of SMC3 variants.
Created: 21 Jun 2021, 7:44 a.m. | Last Modified: 21 Jun 2021, 7:44 a.m.
Panel Version: 0.74

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome 3, MIM# 610759

Created: 21 Jun 2021, 7:44 a.m.
Last Modified: 21 Jun 2021, 7:44 a.m.
Panel version: 0.74

Details

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

History Filter Activity

21 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smc3 has been classified as Amber List (Moderate Evidence).

21 Jun 2021, Gel status: 2

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

21 Jun 2021, Gel status: 2

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

21 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smc3 has been classified as Amber List (Moderate Evidence).

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 Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMC3 was set to Unknown