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| Mendeliome v2.126 | CTDSP2 | chirag patel Marked gene: CTDSP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.126 | CTDSP2 | chirag patel Gene: ctdsp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.126 | CTDSP2 | chirag patel Classified gene: CTDSP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.126 | CTDSP2 | chirag patel Gene: ctdsp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.125 | CTDSP2 |
chirag patel gene: CTDSP2 was added gene: CTDSP2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CTDSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTDSP2 were set to 39941065; 38731925 Phenotypes for gene: CTDSP2 were set to Craniofacial microsomia, MONDO:0015397 Review for gene: CTDSP2 was set to AMBER Added comment: PMID 38731925 reports 2 individuals from 2 unrelated families with the same de novo rare heterozygous missense variant in CTDSP2 (c.332C>A, p.T111N). They presented with hemifacial microsomia (unilateral facial hypoplasia, mandibular hypoplasia, ear malformations, and unilateral moderate-severe conductive hearing loss). PMID 39941065 reports the functional studies for the p.T111N variant. Zebrafish ctdsp2 knockout models exhibited craniofacial defects characterized by cartilage malformations and chondrocyte disorganization. In silico and in vivo experiments revealed the association of CTDSP2 with chondrogenic differentiation of neural crest cells as well as the TGF-β and p53 signaling pathways. Rescue by wild‑type ctdsp2 mRNA or tp53 knockout restores normal cartilage, providing strong functional support. Sources: Literature |
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| Mendeliome v1.4767 | SCP2 | Zornitza Stark edited their review of gene: SCP2: Added comment: PMID 39941065 reports 2 individuals from 2 unrelated families with de novo heterozygous missense CTDSP2 (c.332C>A, p.T111N) variants presenting with hemifacial microsomia (unilateral facial hypoplasia, ear malformations, mandibular underdevelopment). Zebrafish ctdsp2 knockout recapitulates the craniofacial phenotype and rescue by wild‑type ctdsp2 mRNA or tp53 knockout restores normal cartilage, providing functional support.; Changed publications: 26497993, 39941065; Changed phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724, Craniofacial microsomia, MONDO:0015397, SCP2-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||