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  3. SLF2
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DDG2P

Gene: SLF2

Green List (high evidence)
SLF2 (SMC5-SMC6 complex localization factor 2)
EnsemblGeneIds (GRCh38): ENSG00000119906
EnsemblGeneIds (GRCh37): ENSG00000119906
OMIM: 610348, Gene2Phenotype
SLF2 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 SLF2-related developmental disorder are moderate, biallelic_autosomal and undetermined (PMID:36333305). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03451.
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 SLF2-related developmental disorder is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and 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
MONDO:0859575; SLF2-related developmental disorder; OMIM:620184.0

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
  • SLF2-related developmental disorder
OMIM
610348
Clinvar variants
Variants in SLF2
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: SLF2 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: SLF2 was added gene: SLF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLF2 were set to 36333305 Phenotypes for gene: SLF2 were set to SLF2-related developmental disorder Mode of pathogenicity for gene: SLF2 was set to Other