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| Skeletal dysplasia v5.3 | SETD5 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SETD5. Tag Q3_23_NHS_review was removed from gene: SETD5. |
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| Skeletal dysplasia v5.3 | SETD5 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance updated 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 updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.3 | SETD5 | Achchuthan Shanmugasundram commented on gene: SETD5: The rating of this gene has been updated togreenand the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.2 | SETD5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SETD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v4.15 | SETD5 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.14 | SETD5 | Achchuthan Shanmugasundram edited their review of gene: SETD5: Changed phenotypes to: Intellectual developmental disorder, autosomal dominant 23, OMIM:615761, skeletal dysplasia, MONDO:0018230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.14 | SETD5 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.14 | SETD5 | Achchuthan Shanmugasundram Classified gene: SETD5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.14 | SETD5 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.14 | SETD5 | Achchuthan Shanmugasundram Gene: setd5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.13 | SETD5 | Achchuthan Shanmugasundram Classified gene: SETD5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.13 | SETD5 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.13 | SETD5 | Achchuthan Shanmugasundram Gene: setd5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.12 | SETD5 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.11 | SETD5 | Achchuthan Shanmugasundram Publications for gene: SETD5 were set to 28881385 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.10 | SETD5 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SETD5. Tag Q3_23_NHS_review tag was added to gene: SETD5. |
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| Skeletal dysplasia v4.10 | SETD5 | Achchuthan Shanmugasundram reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24680889, 28881385; Phenotypes: Intellectual developmental disorder, autosomal dominant 23, OMIM:615761; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.10 | SETD5 |
Tracy Lester 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 Added comment: 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 GMS |
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