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  2. Monogenic short stature
  3. SETD5
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Monogenic short stature

Gene: SETD5

Amber List (moderate evidence)
SETD5 (SET domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000168137
EnsemblGeneIds (GRCh37): ENSG00000168137
OMIM: 615743, Gene2Phenotype
SETD5 is in 7 panels

3 reviews

Catherine Snow (Genomics England)

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Green in R19 and DDG2P. Further clinical input required to determine utility of including this gene in this panel as overlaps with R213, i.e how may patients present with minor criteria (thyroid). Inclusion of this gene would require an update of the eligibility criteria."
Created: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.
Panel Version: 2.33
Created: 31 Jan 2023, 5:28 p.m.
Last Modified: 31 Jan 2023, 5:28 p.m.
Copied from panel: Growth failure in early childhood v3.78

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM and Gene2Phenotype (confirmed). As the severity of some of these cases were not stated in the publications, this gene has been added to the panel as Amber and have been flagged to be reviewed by the GMS expert review panel.
Created: 25 Oct 2021, 9:09 a.m. | Last Modified: 25 Oct 2021, 9:09 a.m.
Panel Version: 1.90
Created: 25 Oct 2021, 9:09 a.m.
Last Modified: 25 Oct 2021, 9:09 a.m.
Copied from panel: Growth failure in early childhood v3.78

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

In 13/25 published cases in the literature (sumarized in PMID: 28881385), growth retardation is reported. Additionally, two cases with bone fragility reported PMID: 34169511.
Sources: Literature
Created: 30 Jun 2021, 11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability; developmental delay; growth retardation; bone fragility

Publications

Created: 30 Jun 2021, 11 a.m.

Copied from panel: Growth failure in early childhood v3.78

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 23, OMIM:615761
OMIM
615743
Clinvar variants
Variants in SETD5
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: SETD5 was added gene: SETD5 was added to Monogenic short stature. Sources: Expert Review Amber,Literature Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD5 were set to 28881385 Phenotypes for gene: SETD5 were set to Intellectual developmental disorder, autosomal dominant 23, OMIM:615761 Penetrance for gene: SETD5 were set to Incomplete