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GENATLAS PHENOTYPE

last update : 13-03-2019

Symbol	ICS43
Location	17q12
Name	immotile cilia syndrome 43
Other name(s)	Primary ciliary dyskinesia Ciliary dyskinesia, primary, 41
Corresponding gene	GAS2L2
Other symbol(s)	PCD, CILD41
Main clinical features	neonatal respiratory distress, bronchiectasis, otitis media, and rhinosinusitis combination of primary ciliary dyskinesia and situs inversus
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Remark(s)

. defective ciliary orientation, resulting from a genetic variant in GAS2L2, causes PCD (PMID: 30665704))