Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Table 1 Molecular diagnoses in Mendelian diseases among 24 positive cases

Inheritance	Gene	Number of cases
Autosomal dominant^a	CACNA1A, CHD2, FLNC, KCNT1, KIF11, PRKAG2, SF3B4, SPAST, SYNGAP1, TCF4, TNNT3, TP63	12
Autosomal recessive	AGRN, BRAT1, COLQ (in 2 patients), CTPS1, KPTN, LZTR1, PAPSS2, PTPRC, SPG7	10
X-linked dominant	WDR45	1
X-linked recessive	AIFM1	1

ISSN: 1756-994X