Activity
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11 actions
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| Skeletal dysplasia v7.23 | EXOC6B | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EXOC6B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.23 | EXOC6B | Achchuthan Shanmugasundram commented on gene: EXOC6B: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.22 | EXOC6B |
Achchuthan Shanmugasundram Source NHS GMS was added to EXOC6B. Source Expert Review Green was added to EXOC6B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v6.27 | EXOC6B | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.27 | EXOC6B | Achchuthan Shanmugasundram Classified gene: EXOC6B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.27 | EXOC6B | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases and functional evidence) for the association of this gene with green rating on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.27 | EXOC6B | Achchuthan Shanmugasundram Gene: exoc6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.27 | EXOC6B | Achchuthan Shanmugasundram Classified gene: EXOC6B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.27 | EXOC6B | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases and functional evidence) for the association of this gene with green rating on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.27 | EXOC6B | Achchuthan Shanmugasundram Gene: exoc6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.26 | EXOC6B |
Achchuthan Shanmugasundram gene: EXOC6B was added gene: EXOC6B was added to Skeletal dysplasia. Sources: Literature Q3_24_promote_green tags were added to gene: EXOC6B. Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC6B were set to 26669664; 30284759; 36150098 Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395 Review for gene: EXOC6B was set to GREEN Added comment: PMID:26669664 reported two brothers with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones. They were identified with a homozygous nonsense variant in EXOC6B gene (p.Tyr302Ter). PMID:30284759 reported two sisters with dislocations of the hips and knees, long slender fingers with distal tapering and significant motor disability but normal (older sister) or low-normal intelligence (younger sister). They were identified with a homozygous in-frame deletion of exons 9-20 in EXOC6B gene. PMID:36150098 reported two unrelated individuals with the same condition, Spondyloepimetaphyseal dysplasia with joint laxity, type 3. One of them was identified with a homozygous frameshift exon 20 deletion and the other with a homozygous nonsense variant (p.Leu134Ter). Functional studies on patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis. This gene has been associated with relevant phenotypes in OMIM (MIM #618395), but not yet in Gene2Phenotype. Sources: Literature |
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