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GENATLAS PHENOTYPE

last update : 29/08/2006

Symbol	PAPA2
Location	13q31-q32
Name	polydactyly, postaxial, type A2
Main clinical features	extra digit is rather well formed and articulates with the fifth or an extra metacarpal
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
	limbs
Type	malformation

Gene product

Name	candidate genes: GPC5 and GPC6, with expression in the developping limbs in the mouse

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	duplication		a duplicated region spanned 5.59 Mb (89.67-95.25 Mb) at 13q31.3q32.1 and contained eleven known genes, including GPC5 and GPC6.

Remark(s)