TANGO6

On this page, you will find information about a genetic change that was identified in a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Changes in this gene were identified in a male, age 4, with global developmental delay, brain abnormalities, seizures, and hearing and vision loss (read full description).

Date of Report

Mar 30, 2020

Full Name

transport and golgi organization 6 homolog

Location

Chromosome 16 (16q22.1)

Function

N/A

Database Links

GeneCards: TANGO6

NCBI Gene: 79613

UniProtKB/Swiss-Prot: Q9C0B7

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene TANGO6

Inheritance Pattern Autosomal recessive

Position (hg19) chr16:g.68894224G>A & g.69117505A>T

Transcript NM_024562.1

DNA Change c.532G>A & c.3226A>T

Protein Change p.Val178Ile & p.Met1076Leu

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