Microcephaly
Gene: SMC3
SMC3 (structural maintenance of chromosomes 3)
EnsemblGeneIds (GRCh38): ENSG00000108055
EnsemblGeneIds (GRCh37): ENSG00000108055
OMIM: 606062, Gene2Phenotype
SMC3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000108055
EnsemblGeneIds (GRCh37): ENSG00000108055
OMIM: 606062, Gene2Phenotype
SMC3 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, microcephaly is part of the phenotype.
Sources: Expert listCreated: 3 Sep 2020, 8:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 3, MIM# 610759
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cornelia de Lange syndrome 3, MIM# 610759
- OMIM
- 606062
- Clinvar variants
- Variants in SMC3
- Penetrance
- None
- Panels with this gene
History Filter Activity
3 Sep 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).
3 Sep 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).
3 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SMC3 was added gene: SMC3 was added to Microcephaly. Sources: 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, MIM# 610759 Review for gene: SMC3 was set to GREEN