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DDG2P

Gene: SMC5

Green List (high evidence)
SMC5 (structural maintenance of chromosomes 5)
EnsemblGeneIds (GRCh38): ENSG00000198887
EnsemblGeneIds (GRCh37): ENSG00000198887
OMIM: 609386, Gene2Phenotype
SMC5 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SMC5-related developmental disorder are moderate, biallelic_autosomal and undetermined (PMID:36333305). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03452.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease SMC5-related developmental disorder is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;uncertain (PMID:36333305).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SMC5-related developmental disorder; OMIM:620185.0; MONDO:0859576

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SMC5-related developmental disorder
OMIM
609386
Clinvar variants
Variants in SMC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SMC5 was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SMC5 was added gene: SMC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMC5 were set to 36333305 Phenotypes for gene: SMC5 were set to SMC5-related developmental disorder Mode of pathogenicity for gene: SMC5 was set to Other