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  2. Chromosome Breakage Disorders
  3. SLF2
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Chromosome Breakage Disorders

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 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.

Increased chromosome breakage is a feature of this disorder.
Sources: Literature
Created: 16 Nov 2022, 1:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Atelis syndrome 1, MIM# 620184

Publications

Created: 16 Nov 2022, 1:38 a.m.

Panel version: 1.15

Details

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

History Filter Activity

10 Jan 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLF2 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 1, MIM# 620184

16 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slf2 has been classified as Green List (High Evidence).

16 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slf2 has been classified as Green List (High Evidence).

16 Nov 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLF2 was added gene: SLF2 was added to Chromosome Breakage Disorders. Sources: Literature 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 Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID Review for gene: SLF2 was set to GREEN