Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome

Table 1

Genes curated for the NGS-panel.

Gene	Position	Ref seq. no.	OMIM	Association
HIRA	22q11.21	NP_003316.3	600237	Cardiac anomalies
CRKL	22q11.21	NP_005198.1	602007	Cardiac anomalies
MAPK1	22q11.22	NM_138957.3	176948	Cardiac anomalies
HDAC1	1p35.2	NP_004955.2	601241	Cardiac anomalies
ZFPM2	8q23	NP_036214.2	603693	Cardiac anomalies
JAM3	11q25	NP_116190.3	606871	Cardiac anomalies
TANGO2	22q11.21	NP_690870.3	616830	Immunopsychiatric disorders
ZDHHC8	22q11.21	NP_037505.1	608784	Immunopsychiatric disorders
PI4KA	22q11.21	NP_477352.3	600286	Immunopsychiatric disorders