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  3. SMC5
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Fetal anomalies

Gene: SMC5

Green List (high evidence)
SMC5 (structural maintenance of chromosomes 5)
EnsemblGeneIds (GRCh38): ENSG00000198887
EnsemblGeneIds (GRCh37): ENSG00000198887
OMIM: 609386, Gene2Phenotype
SMC5 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Samantha Doyle (The National Maternity Hospital)

Green List (high evidence)

Some affected children have associated congenital heart disease, PMID: 36333305 discusses 11 affected cases with SLF2 or SMC5 variants. IUGR and microcephaly presented prenatally. In addition, some had other features which would be seen prenatally including; microphthalmia, congenital cataracts, kidney abnormalities,
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Atelis syndrome 2, OMIM:620185

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Atelis syndrome 2, OMIM:620185
OMIM
609386
Clinvar variants
Variants in SMC5
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Atelis syndrome 2, OMIM:620185 for gene: SMC5

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: SMC5 was added gene: SMC5 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal