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  2. Monogenic short stature
  3. SLF2
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Monogenic short stature

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

2 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 11 Dec 2025, 1:25 p.m. | Last Modified: 11 Dec 2025, 1:25 p.m.
Panel Version: 1.27
Created: 11 Dec 2025, 1:25 p.m.
Last Modified: 11 Dec 2025, 1:25 p.m.
Panel version: 1.27

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (six unrelated cases) for the association of this gene with green rating in the next GMS update.
Created: 21 Jun 2024, 7:11 p.m. | Last Modified: 21 Jun 2024, 7:11 p.m.
Panel Version: 0.180
PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association.

This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Created: 21 Jun 2024, 7:09 p.m. | Last Modified: 7 Aug 2024, 9:44 a.m.
Panel Version: 0.182

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Atelis syndrome 1, OMIM:620184

Publications

Created: 21 Jun 2024, 7:09 p.m.
Last Modified: 7 Aug 2024, 9:44 a.m.
Panel version: 0.179

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Atelis syndrome 1, OMIM:620184
OMIM
610348
Clinvar variants
Variants in SLF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2025, Gel status: 3

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: SLF2.

10 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Ida Ertmanska (Genomics England Curator)

Source Expert Review Green was added to SLF2. Source NHS GMS was added to SLF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

10 Dec 2024, Gel status: 2

Removed Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: SLF2. Tag Q3_24_promote_green tag was added to gene: SLF2.

21 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: slf2 has been classified as Amber List (Moderate Evidence).

21 Jun 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SLF2 was added gene: SLF2 was added to Monogenic short stature. Sources: Literature Q2_24_promote_green tags were added to gene: SLF2. 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 Atelis syndrome 1, OMIM:620184 Review for gene: SLF2 was set to GREEN