Table 1

Clinical information, genotype data (HLA-B27, SEC16A and MAMDC4) of the large, well-characterised, multigenerational family with numerous individuals clinically diagnosed with and without AxSpA

Family member	Diagnosis (Dx)	Extra-articular features	Age of onset (years)	SEC16A/MAMDC4 status	HLA-B27 status
I-2	Unaffected	–	N/A	Het/Het	Negative
II-1	AxSpA	None	26	Het/Het	Positive
II-2	Unaffected	–	N/A	Wt/Wt	Negative
II-4	AxSpA	None	12	Het/Het	Positive
II-6	AxSpA	Psoriasis	27	Het/Het	Positive
II-8	AxSpA	Lupus	12	Het/Het	Positive
II-9	AxSpA	None	30	Het/Het	Positive
II-11	Unaffected	–	N/A	Wt/Wt	Positive
II-13	AxSpA	Iritis	35	Wt/Wt	Positive
II-15	Unaffected	N/A	N/A	Wt/Wt	Positive
II-17	AxSpA	Crohn's	35	Wt/Wt	Positive
II-19	AxSpA	Iritis	N/A	Het/Het	Positive
II-21	Unaffected	–	N/A	Wt/Wt	Positive
II-23	Unaffected	–	N/A	Wt/Wt	Positive
III-2	AxSpA	None	14	Het/Het	Positive

Detailed information is provided for only the second generation and one individual (III-2) in the third generation.
AxSpA, axial spondyloarthritis; Het, heterozygous for deletion; N/A, information not available; Wt, wild-type (no deletion).