Growth failure in early childhood
Gene: SETD5After 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
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
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: LiteratureCreated: 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
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
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.
Tag Q4_21_rating tag was added to gene: SETD5.
Tag Q4_21_expert_review tag was added to gene: SETD5. Tag Q4_21_phenotype tag was added to gene: SETD5.
Gene: setd5 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SETD5 were changed from Mental retardation, autosomal dominant 23, OMIM:615761 to Mental retardation, autosomal dominant 23, OMIM:615761; growth retardation; bone fragility
Phenotypes for gene: SETD5 were changed from intellectual disability; developmental delay; growth retardation; bone fragility to Mental retardation, autosomal dominant 23, OMIM:615761
Publications for gene: SETD5 were set to PMID: 28881385
gene: SETD5 was added gene: SETD5 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD5 were set to PMID: 28881385 Phenotypes for gene: SETD5 were set to intellectual disability; developmental delay; growth retardation; bone fragility Penetrance for gene: SETD5 were set to Incomplete Review for gene: SETD5 was set to GREEN