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Mendeliome

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

Chern Lim (Victorian Clinical Genetics Services)

Red List (low evidence)

Association with Mendelian disease not established.

Is a candidate gene for autism spectrum disorder: single patient, compound heterozygous nonsense variants. Functional studies showed Tmprss9 gene is expressed in mouse brain, knockout mice had decreased social interest and social recognition. (PMID: 31943016)
Sources: Literature
Created: 20 Apr 2020, 7:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autism spectrum disorder

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • autism spectrum disorder
OMIM
610477
Clinvar variants
Variants in TMPRSS9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmprss9 has been classified as Red List (Low Evidence).

20 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmprss9 has been classified as Red List (Low Evidence).

20 Apr 2020, Gel status: 0

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

Chern Lim (Victorian Clinical Genetics Services)

gene: TMPRSS9 was added gene: TMPRSS9 was added to Mendeliome. Sources: Literature 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 autism spectrum disorder Review for gene: TMPRSS9 was set to RED