Skeletal dysplasia
Gene: STT3A
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 2:18 p.m. | Last Modified: 30 Jan 2023, 2:34 p.m.
Panel Version: 3.5
Comment on list classification: Congenital disorder of glycosylation due to monoallelic variants in STT3A has been identified in at least 16 patients from 9 families (PMID: 34653363). Phenotypes included skeletal abnormalities in 10/16 subjects. Overall this supports a Green gene rating with a 'monoallelic' MOI on this panel at the next GMS panel review.Created: 10 Aug 2022, 10:41 a.m. | Last Modified: 10 Aug 2022, 10:41 a.m.
Panel Version: 2.209
A recent paper has shown that heterozygous missense variants in the active site cause a disorder of glycosylation associated with short stature and skeletal defects in a majority of individuals. The gene is already green on the ID panel for AR condition but new review has been added to change to AD as well. The recessive disorder associated with this gene in primarily neurological so this inheritance model is not relevant in the context of skeletal dysplasia
Sources: NHS GMSCreated: 3 Aug 2022, 11:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Short stature; skeletal defects; Intellectual disability; Speech delay; macrocephaly; dysmorphism
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Tag Q3_22_rating was removed from gene: STT3A. Tag Q3_22_NHS_review was removed from gene: STT3A.
Source Expert Review Green was added to STT3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: STT3A were changed from Short stature; skeletal defects; Intellectual disability; Speech delay; macrocephaly; dysmorphism to Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714
Gene: stt3a has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating tag was added to gene: STT3A. Tag Q3_22_NHS_review tag was added to gene: STT3A.
gene: STT3A was added gene: STT3A was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: STT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STT3A were set to 34653363 Phenotypes for gene: STT3A were set to Short stature; skeletal defects; Intellectual disability; Speech delay; macrocephaly; dysmorphism Penetrance for gene: STT3A were set to unknown Mode of pathogenicity for gene: STT3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: STT3A was set to GREEN