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

From: B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycanopathies

Gene name Protein Disease association/mode of inheritance
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
  1. AR autosomal recessive