Growth failure in early childhood
Gene: SETD5

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.
Panel version: 2.33

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.
Panel version: 1.90

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

PMID: 28881385

Created: 30 Jun 2021, 11 a.m.

Panel version: 1.71

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber

Phenotypes

Intellectual developmental disorder, autosomal dominant 23, OMIM:615761

OMIM

615743

Clinvar variants

Variants in SETD5

Penetrance

Incomplete

Publications

28881385

Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SETD5 were changed from Mental retardation, autosomal dominant 23, OMIM:615761; growth retardation; bone fragility to Intellectual developmental disorder, autosomal dominant 23, OMIM:615761

2 Feb 2023, Gel status: 2

Removed Tag, Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_21_expert_review was removed from gene: SETD5. Tag Q4_21_rating was removed from gene: SETD5. Tag Q4_21_phenotype was removed from gene: SETD5.

6 Oct 2022, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: SETD5.

25 Oct 2021, Gel status: 2