| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.113 | TK1 | chirag patel Marked gene: TK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.113 | TK1 | chirag patel Gene: tk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.113 | TK1 | chirag patel Classified gene: TK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.113 | TK1 | chirag patel Gene: tk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.112 | TK1 |
chirag patel gene: TK1 was added gene: TK1 was added to Skeletal dysplasia. Sources: Other Mode of inheritance for gene: TK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TK1 were set to Thoracolaryngopelvic dysplasia, MONDO:0008551 Review for gene: TK1 was set to AMBER Added comment: ESHG 2026 Barnes syndrome (thoraco-laryngo-pelvic dysplasia/TLPD) is a very rare autosomal dominant skeletal dysplasia, clinically characterised by thoracic dystrophy, narrow pelvis and laryngeal stenosis. They report 3 unrelated individuals with TLPD with neonatal hypotonia, thoracic dystrophy with short ribs, subglottic stenosis/tracheal hypoplasia requiring tracheostomy, and narrow pelvis with delayed ossification of pubic rami. Trio WGS identified 2 different rare heterozygous de novo variants (1 x p.Phe29Leu and 2 x p.Lys170del) in TK1 gene. TK1 gene codes for cytosolic thymidine kinase, which phosphorylates thymidine and plays role in DNA synthesis and cell proliferation. Functional studies in lymphoblastoid cell lines suggest a significant reduction of TK1 activity. Further studies are needed to clarify the role of TK1 in bone morphogenesis. Sources: Other |
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