Skeletal dysplasia
Gene: SETD5
Comment on list classification: As reviewed by Tracy Lester, the observed intellectual developmental disorder phenotype includes skeletal abnormalities ( at least 9 cases) and these might appear before ID. Hence, this gene can be promoted to green rating in the next GMS review.Created: 8 Aug 2023, 7:37 p.m. | Last Modified: 8 Aug 2023, 7:37 p.m.
Panel Version: 4.14
PMID:24680889 - Of seven patients with SETD5 loss-of-function variants, four had scoliosis or kyphosis, and two had leg-length discrepancy.
PMID:28881385 - Of 14 cases reported with SETD5 variants in this publication, four had scoliosis, kyphosis, lordosis.Created: 8 Aug 2023, 7:31 p.m. | Last Modified: 8 Aug 2023, 7:31 p.m.
Panel Version: 4.10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 23, OMIM:615761; skeletal dysplasia, MONDO:0018230
Publications
This gene is associated with an autosomal dominant neurodevelopmental disorder characterised by developmental delay, intellectual disability, and variable dysmorphic and skeletal abnormalities. Expressivity is variable and non-penetrance has been reported. As the skeletal features might appear before the ID/DD I think this gene should be added to the SD panel. We recently found a pathogenic fs in this gene in a child with short stature, short long bones and facial dysmorphism but without mention of DD/ID; however case was only 10m old at referral.
Sources: NHS GMSCreated: 9 Jul 2023, 10:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Skeletal dysplasia; intellectual disability; developmental delay; facial dysmorphism
Publications
Phenotypes for gene: SETD5 were changed from Intellectual developmental disorder, autosomal dominant 23, OMIM:615761; Skeletal dysplasia; intellectual disability; developmental delay; facial dysmorphism to Intellectual developmental disorder, autosomal dominant 23, OMIM:615761; skeletal dysplasia, MONDO:0018230; facial dysmorphism
Gene: setd5 has been classified as Amber List (Moderate Evidence).
Gene: setd5 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SETD5 were changed from Skeletal dysplasia; intellectual disability; developmental delay; facial dysmorphism to Intellectual developmental disorder, autosomal dominant 23, OMIM:615761; Skeletal dysplasia; intellectual disability; developmental delay; facial dysmorphism
Publications for gene: SETD5 were set to 28881385
Tag Q3_23_promote_green tag was added to gene: SETD5. Tag Q3_23_NHS_review tag was added to gene: SETD5.
gene: SETD5 was added gene: SETD5 was added to Skeletal dysplasia. Sources: NHS GMS 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 Skeletal dysplasia; intellectual disability; developmental delay; facial dysmorphism Penetrance for gene: SETD5 were set to Incomplete Review for gene: SETD5 was set to GREEN