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Paediatric pseudo-obstruction syndrome

Gene: TPM3

Red List (low evidence)
TPM3 (tropomyosin 3)
EnsemblGeneIds (GRCh38): ENSG00000143549
EnsemblGeneIds (GRCh37): ENSG00000143549
OMIM: 191030, Gene2Phenotype
TPM3 is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

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
Created: 30 Dec 2022, 10:11 p.m.
Last Modified: 30 Dec 2022, 10:11 p.m.
Panel version: 0.216

Eleanor Williams (Genomics England Curator)

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

Created: 20 Dec 2022, 3:32 p.m.
Last Modified: 20 Dec 2022, 3:32 p.m.
Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Megacolon
OMIM
191030
Clinvar variants
Variants in TPM3
Penetrance
None
Panels with this gene

History Filter Activity

4 Jan 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TPM3 were changed from to Megacolon

4 Jan 2023, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: TPM3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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