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: GC14P035044

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.

Gene FAM177A1
Inheritance Pattern Autosomal recessive
Position Chr14:35513595_ 35521682; Chr14:35546986_ 35556772
Transcript NM_173607.4
DNA Change 8kb deletion; 9.7kb deletion
Protein Change N/A
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