Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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4 actions
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| Clefting v6.11 | CTGF | Arina Puzriakova Classified gene: CTGF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.11 | CTGF | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 2 unrelated cases supported by a recapitulated phenotype in an animal model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.11 | CTGF | Arina Puzriakova Gene: ctgf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.10 | CTGF |
Arina Puzriakova gene: CTGF was added gene: CTGF was added to Clefting. Sources: Literature new-gene-name, Q3_25_promote_green tags were added to gene: CTGF. Mode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTGF were set to 39506047; 39414788; 12736220 Phenotypes for gene: CTGF were set to Kyphomelic dysplasia, OMIM:211350; kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510 Review for gene: CTGF was set to GREEN Added comment: PMID: 39506047 (2025) reported three individuals from two unrelated families with different homozygous CCN2 variants and kyphomelic dysplasia - all had cleft palate or bifid uvula as part of their phenotype. Ccn2-deficient mice also show skeletal dysmorphisms as well as secondary cleft palate, supporting this association. Individuals with monoallelic variants in this gene do not exhibit dysmorphic facial phenotypes such as cleft palate (PMID: 39414788). Sources: Literature |
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