Table 1.

NMD Alters the Pattern of Inheritance

Gene Symbol	Gene Name	OMIM reference no.	5’ PTC AR 3’ PTC AD	References
HBB	β-globin gene	141900	β-thalassemia	[72-75]
IFNGR1	Interferon gamma receptor 1	107470	Mycobacterial infection	[76, 77]
ROR2	Receptor tyrosine kinase-like orphan receptor 2	602337	5’ PTC Robinow syndrome 3’ PTC Brachydactyly type B	[78, 79]
VWF	von Willebrand factor	613160	von Willebrand disease	[80]
F10	Factor X	613872	Factor X deficiency	[81]
RHO	Rhodopsin	180380	Retinitis pigmentosa	[82, 83]
CLCN1	Chloride channel 1	118425	5’ PTC Becker disease 3’ PTC Thomsen disease	[84]
CRX	Cone-rod homeobox-containing gene	602225	Leber congenital amaurosis 5’ PTC heterozygous normal 3’ PTC AD	[85]
ABCC6	ATP-binding cassette, subfamily C member 6	603234	Pseudoxanthoma elasticum	[86]

AD: autosomal dominant; AR: autosomal recessive; PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease; PTC: premature termination codon