Table 3 The protein-coding genes within the mapped locus uncovered in Family B

LYST

Lysosomal trafficking regulator

AR-Chediak-Higashi syndrome

GNG4

Guanine nucleotide-binding protein

-

B3GALNT2

Beta-1,3-N-Acetylgalactosaminyltransferase 2

AR-Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11

TBCE

Tubulin-specific chaperone E

AR-Encephalopathy, progressive, with amyotrophy and optic atrophy

AR-Hypoparathyroidism-retardation-dysmorphism syndrome

AR-Kenny-Caffey syndrome, type 1

GGPS1

Geranylgeranyl diphosphate synthase 1

-

ARID4B

AT-rich interaction domain-containing protein B

-

TOMM20

Translocase of outer mitochondrial membrane 20

-

IRF2BP2

Interferon regulatory factor 2-binding protein 2

-

TARBP1

TAR RNA-binding protein 1

-

COA6

Cytochrome c oxidase assembly factor 6

AR-Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

KCNK1

Potassium channel, subfamily K, member 1

-

MAP3K21

Mixed-lineage kinase 4

-

SIPA1L2

Sipa1-like protein 2

-

DISC1

Schizophrenia 9

Susceptibility to schizophrenia