TPO

Thyroid peroxidase. Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T3 and T4.

c.1181_1182insCGGC: p.D394fs

BBS12

Bardet-Biedl syndrome 12 protein. Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia.

c.T116C:p.I39T

DNAH9

Dynein heavy chain 9, axonemal. Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules.

c.T9534G:p.F3178L

ITF81

Intraflagellar transport protein 81 homolog. Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium.

c.174delA:p.58fs

OFD1

Oral-facial-digital syndrome 1 protein. Component of the centrioles controlling mother and daughter centrioles length. Involved in the biogenesis of the cilium, a centriole-associated function.

c.702delA:p.A234fs

TAPT1

Transmembrane anterior posterior transformation protein 1 homolog. Plays a role in primary cilia formation.

c.A704C:p.H235P