Autism

Gene: TMPRSS9

Comment on list classification: Rating this gene Red as second case is based on unpublished results. Also added to ID panel.

Created: 30 Mar 2021, 3:38 p.m. | Last Modified: 30 Mar 2021, 3:38 p.m.

Panel Version: 0.21

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'.

Created: 30 Mar 2021, 3:37 p.m. | Last Modified: 30 Mar 2021, 3:37 p.m.

Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 31943016

Red List (low evidence)

Single individual reported.
Sources: Literature

Created: 1 May 2020, 9:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autism spectrum disorder

Publications

• 31943016