TSHZ1

Chr 18AD

teashirt zinc finger homeobox 1

Also known as: CAA, NY-CO-33, SDCCAG33, TSH1

NCBI Gene: 10194 ENSG00000179981 UniProt: Q6ZSZ6 OMIM: 614427

This gene encodes a zinc-finger transcriptional regulator involved in developmental processes. Mutations cause congenital aural atresia syndrome with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variation (pLI 0.997), suggesting mutations likely have significant developmental consequences.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Aural atresia, congenitalMIM #607842

Clinical highlights

Gene-disease validity (ClinGen)

aural atresia, congenital · ADLimitednot for standalone diagnostic reporting

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· G2P