FAM177A1

On this page, you will find information about genetic changes that were identified in UDN participants. We are trying to find others with the same or similar condition.

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Changes in this gene were identified in a male, age 8, with global developmental delay, large head size (macrocephaly), low muscle tone (hypotonia), and seizures. His sister has similar symptoms (read full description).

Date of Report

Jul 10, 2019

Full Name

family with sequence similarity 177 member A1

Location

Chromosome 14 (14q13.2)

Function

Database Links

GeneCards: FAM177A1

NCBI Gene: 283635

UniProtKB/Swiss-Prot: Q8N128

Clinical Significance

Changes in this gene were identified in UDN participants. Research is underway to see if the changes are causing symptoms in these participants. The FAM177A1 Research Fund was created to improve the lives of those affected by FAM177A1-related conditions.

Gene FAM177A1

Inheritance Pattern Autosomal recessive

Position (hg19) chr14:g.35513595_ 35521682del & g.35546986_ 35556772del

Transcript NC_000014.8

DNA Change 8kb deletion & 9.7kb deletion

Protein Change N/A

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