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Intellectual disability

Gene: TMPRSS9

Red List (low evidence)

TMPRSS9 (transmembrane protease, serine 9)
EnsemblGeneIds (GRCh38): ENSG00000178297
EnsemblGeneIds (GRCh37): ENSG00000178297
OMIM: 610477, Gene2Phenotype
TMPRSS9 is in 2 panels

1 review

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

Comment on mode of inheritance: Rating this gene Red as second case is based on unpublished results, but with a watchlist tag as new data on this gene-disease association may become available soon.
Created: 30 Mar 2021, 3:36 p.m. | Last Modified: 30 Mar 2021, 3:36 p.m.
Panel Version: 3.985
TMPRSS9 is currently not associated with any phenotype in OMIM or Gene2Phenotype.

- PMID: 31943016 (2020) - Single female subject with compound heterozygous nonsense variants (paternal: c.286C>T, p.R96*; maternal: c.1267C>T; p.R423*) in TMPRSS9. Early childhood development was normal until 2.5 years of age when she experienced profound developmental regression, including speech, social interaction and motor skills, resulting in ASD and profound ID. Knockout mice showed decreased social interest and recognition, and additionally borderline recognition memory deficit in aged female mice.

- Conference poster (Genomics of Rare Disease 2021) - 'ZOEMBA: combining metabolomics and genomics data to solve the unsolved' by Oud et al, United for Metabolic Diseases (UMD), Netherlands -
Trio WES revealed compound heterozygous variants (paternal: c.143-1G>A, p.?; maternal: c.1864G>A; p.V622M) in the TMPRSS9 gene in a female proband with GDD, PIND, aggression, autism and epilepsy. The individual was recruited on the basis of 'suspicion of an inherited metabolic disorder and extensive genetic and metabolic work-up with no diagnosis'.
Sources: Other
Created: 30 Mar 2021, 3:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive intellectual and neurological deterioration; Global developmental delay; Intellectual disability; Autism; Epilepsy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Progressive intellectual and neurological deterioration
  • Global developmental delay
  • Intellectual disability
  • Autism
  • Epilepsy
Tags
watchlist
OMIM
610477
Clinvar variants
Variants in TMPRSS9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Mar 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: TMPRSS9 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

30 Mar 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: TMPRSS9 was added gene: TMPRSS9 was added to Intellectual disability. Sources: Other watchlist tags were added to gene: TMPRSS9. Mode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMPRSS9 were set to 31943016 Phenotypes for gene: TMPRSS9 were set to Progressive intellectual and neurological deterioration; Global developmental delay; Intellectual disability; Autism; Epilepsy Review for gene: TMPRSS9 was set to RED