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| Skeletal dysplasia v3.5 | STT3A |
Eleanor Williams Tag Q3_22_rating was removed from gene: STT3A. Tag Q3_22_NHS_review was removed from gene: STT3A. |
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| Skeletal dysplasia v3.5 | STT3A | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v3.5 | STT3A | Eleanor Williams reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v3.4 | STT3A |
Eleanor Williams Source Expert Review Green was added to STT3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v2.210 | STT3A | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.209 | STT3A | Arina Puzriakova Classified gene: STT3A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.209 | STT3A | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.209 | STT3A | Arina Puzriakova Gene: stt3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.208 | STT3A |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: STT3A. Tag Q3_22_NHS_review tag was added to gene: STT3A. |
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| Skeletal dysplasia v2.207 | STT3A |
Tracy Lester 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 Added comment: 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 GMS |
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