De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

Table 2 MIM annotated genes with known phenotype within the terminal 2.0 Mb segment of 17q25.3

Gene	Annotated MIM entries	MIM IDs	Inheritance	Heterozygous deletion and duplication in subjects
ACTG1	Baraitser-Winter syndrome 2; Deafness, autosomal dominant 20/26	604717; 614583	AD	7
FSCN2	Retinitis pigmentosa 30	607921	AD	7
PDE6G	Retinitis pigmentosa 57	613582	AR	1, 3, 7
ARHGDIA	Nephrotic syndrome, type 8	615244	AR	1, 3, 7
PYCR1	Cutis laxa, autosomal recessive, type IIB; Cutis laxa, autosomal recessive, type IIIB	612940; 614438	AR	1, 3, 7
ASPSCR1	Alveolar soft-part sarcoma	606243		1, 2, 3, 7, 8
DCXR	Pentosuria	260800	AR	1, 2, 3, 7, 8
CSNK1D	Advanced sleep-phase syndrome, familial, 2	615224	AD	1, 2, 3, 7, 8
ZNF750	Seborrhea-like dermatitis with psoriasiform elements	610227	AD	1, 2, 4, 7, 8

ISSN: 1750-1172