Severe microcephaly
Gene: SLF2EnsemblGeneIds (GRCh38): ENSG00000119906
EnsemblGeneIds (GRCh37): ENSG00000119906
OMIM: 610348, Gene2Phenotype
SLF2 is in 4 panels
2 reviews
Eleanor Williams (Genomics England Curator)
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: 26 Sep 2024, 3:20 p.m. | Last Modified: 26 Sep 2024, 3:20 p.m.
Panel Version: 6.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
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, 7:10 p.m. | Last Modified: 21 Jun 2024, 7:10 p.m.
Panel Version: 5.12
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: LiteratureCreated: 21 Jun 2024, 7:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Atelis syndrome 1, OMIM:620184
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Atelis syndrome 1, OMIM:620184
- OMIM
- 610348
- Clinvar variants
- Variants in SLF2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: SLF2.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to SLF2. Source Expert Review Green was added to SLF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: slf2 has been classified as Amber List (Moderate Evidence).
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 Severe microcephaly. 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