Table 2.

Positive and uncertain cases

Age (years)	Primary reason for referral	Primary results	Gene	Molecular diagnosis
prenatal	Cardiovascular	Positive	AARS2 (OMIM#612035; GenBank RefSeq NG_031952.1)	Combined oxidative phosphorylation deficiency 8
3	Intellectual disability	Positive	FOXP1 (OMIM#605515; GenBank RefSeq NG_028243.1)	Intellectual disability with language impairment and with or without autistic features
3	Intellectual disability	Positive	SYNGAP1 (OMIM#603384; GenBank RefSeq NG_016137.2)	Mental retardation, autosomal dominant 5
2	Multiple congenital anomalies	Positive	FBN1 (OMIM#134797; GenBank RefSeq NG_008805.2)	Type 1 Fibrillinopathy
10	Multiple congenital anomalies	Positive	KAT6B (OMIM#605880; GenBank RefSeq NG_032048.1)	Genitopatellar/Say‐Barber‐Biesecker‐Young‐Simpson syndrome
2	Multiple congenital anomalies	Partial positive	ACTG2 (OMIM#102545; GenBank RefSeq NG_034140.1)	Visceral myopathy
2	Neurodevelopmental	Positive	SLC16A2 (OMIM#300095; GenBank RefSeq NG_011641.1)	Allan‐Herndon‐Dudley syndrome
2	Neurodevelopmental	Positive	TCF4 (OMIM#602272; GenBank RefSeq NG_011716.2)	Pitt‐Hopkins syndrome
8	Neurodevelopmental	Likely positive	EP300 (OMIM#602700; GenBank RefSeq NG_009817.1)	Rubinstein‐Taybi syndrome
2	Neurodevelopmental	Likely positive	DDX3X (OMIM#300160; GenBank RefSeq NG_012830.2)	X‐linked intellectual disability 102
		Positive	RAI1 (OMIM#607642; GenBank RefSeq NG_007101.2)	Smith‐Magenis syndrome
1	Neurodevelopmental	Positive	MECP2 (OMIM#300005; GenBank RefSeq NG_007107.2)	Encephalopathy, neonatal severe
4	Neurodevelopmental	Positive	KDM5C (OMIM#314690; GenBank RefSeq NG_008085.2) MSH6 [Link] (OMIM#600678; GenBank RefSeq NG_007111.1)	X‐linked Claes‐Jensen type syndromic mental retardation, Lynch syndrome
3	Neurodevelopmental	Positive	SLC2A1 (OMIM#138140; GenBank RefSeq NG_008232.1)	Stomatin‐deficient cryohydrocytosis with neurologic defects
21	Neurodevelopmental	Positive	FOXP1 (OMIM#605515; GenBank RefSeq NG_028243.1)	Intellectual disability with language impairment and with or without autistic features
14	Neurodevelopmental	Positive	ANKRD11 (OMIM#611192; GenBank RefSeq NG_032003.1)	KBG syndrome
2	Neurodevelopmental	Positive	SCN8A (OMIM#600702; GenBank RefSeq NG_021180.2)	Epileptic encephalopathy, early infantile, 13
1	Neurodevelopmental	Positive	GABBR2 (OMIM#607340; GenBank RefSeq NG_016426.1)	GABBR2‐related neurodevelopmental disorder
7	Neurodevelopmental	Positive	UBE3A (OMIM#601623; GenBank RefSeq NG_009268.1)	Angelman syndrome
17	Neurodevelopmental	Positive	PMM2 (OMIM#601785; GenBank RefSeq NG_009209.1)	Congenital disorder of glycosylation, Type IA
1 month.	Neuromuscular	Likely positive	SOX10 (OMIM#602229; GenBank RefSeq NG_007948.1)	SOX10‐related peripheral demyelinating neuropathy
4	Neuromuscular	Positive	TPM3 (OMIM#191030; GenBank RefSeq NG_008621.1)	TPM3‐related myopathy
4	Seizures	Likely positive	MEF2C (OMIM#600662; GenBank RefSeq NG_023427.1)	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
2	Cancer susceptibility, Multiple congenital disorders	Likely positive	SMARCE1 (OMIM#603111; GenBank RefSeq NG_032163.1)	Coffin‐Sirissyndrome
		Expanded positive	MSH6 (OMIM#600678; GenBank RefSeq NG_007111.1)	Increased risk of Lynch syndrome
4	Neurodevelopmental	Novel	ZBTB18 (OMIM#608433; GenBank RefSeq NG_033841.1)	ZBTB18‐related intellectual disability with hypogenesis of the corpus callosum
5	Autism	Uncertain	IQSEC2 (OMIM#300522; GenBank RefSeq NG_021296.2)
1 month	Cardiovascular	Uncertain	HCN4 (OMIM#605206; GenBank RefSeq NG_009063.1)
23	Movement disorder	Uncertain	TPK1 (OMIM#606370; GenBank RefSeq NG_032112.1)
11	Neurodevelopmental	Uncertain	SCN8A (OMIM#600702; GenBank RefSeq NG_021180.2)
8	Seizures	Uncertain	DCX (OMIM#300121; GenBank RefSeq NG_011750.1)
11	Seizures	Uncertain	SETBP1 (OMIM#611060;GenBank RefSeq NG_027527.2)
7	Undergrowth	Positive[Link]	CACNA1S (OMIM#114208; GenBank RefSeq NG_009816.1)	Increased risk of malignant hyperthermia

Secondary finding.