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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. SMC3
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: SMC3

Green List (high evidence)
SMC3 (structural maintenance of chromosomes 3)
EnsemblGeneIds (GRCh38): ENSG00000108055
EnsemblGeneIds (GRCh37): ENSG00000108055
OMIM: 606062, Gene2Phenotype
SMC3 is in 12 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Limb hypoplasia-reduction defects gp of SD - several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome 3 610759

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cornelia de Lange syndrome 3 610759
OMIM
606062
Clinvar variants
Variants in SMC3
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: SMC3 was added gene: SMC3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green 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