Paediatric pseudo-obstruction syndrome
Gene: TPM3
The rating of this gene has been updated to Red and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on list classification: The phenotypes that are reported in OMIM or G2P are not relevant to this panel. PMID:30663199 does not report any cases associated with TPM3 and a quick literature search did not find any publications making an association. So, this gene should be rated as RED.Created: 30 Dec 2022, 10:11 p.m. | Last Modified: 30 Dec 2022, 10:11 p.m.
Panel Version: 0.152
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: Tropomyosin 3.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
Unknown
Phenotypes
Megacolon
Publications
Phenotypes for gene: TPM3 were changed from to Megacolon
Mode of inheritance for gene: TPM3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: TPM3 was added gene: TPM3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: TPM3 was set to