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Table 5 Dysregulated ID genes in POLR3B mutated patients

From: Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

Gene symbol log 2FoldChange p value Gene name Model_of_inheritance Phenotypes
ADGRG1 0.771931 0.0163 Adhesion G Protein-Coupled Receptor G1 BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal, 606,854
ADPRHL2 − 0.549797 0.04495 ADP-Ribosylserine Hydrolase BIALLELIC, autosomal or pseudoautosomal Developmental regression;Seizures;Ataxia;Intellectual disability
ARV1 0.998172 0.02185 ARV1 BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 38
ATP6V1A − 0.605652 0.03905 ATPase H + Transporting V1 Subunit A MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, infantile or early childhood,
ATP8B1 1.54362 0.0248 ATPase Phospholipid Transporting 8B1 BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1,
CEP290 0.965876 0.0449 Centrosomal Protein 290 BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 5, 610188Senior-Loken syndrome 6
CLCN4 − 0.989201 0.0033 Chloride Voltage-Gated Channel 4 X-LINKED: hemizygous mutation in males Mental retardation, X-linked 49–15 300,114
COX7B 1.38666 0.0017 Cytochrome C Oxidase Subunit 7B X-LINKED: hemizygous mutation in males Gene2Phenotype confirmed gene with ID HPO
CYP27A1 0.882676 0.016 Cytochrome P450 Family 27 Subfamily A Member 1 Other—please specify in evaluation comments Cerebrotendinous xanthomatosis
DDX11 2.25969 0.02515 DEAD/H-Box Helicase 11 BIALLELIC, autosomal or pseudoautosomal WARSAW BREAKAGE SYNDROME (WBRS)
EEF1B2 1.08279 0.04285 Eukaryotic Translation Elongation Factor 1 Beta 2 BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION
EZH2 0.977038 0.03085 Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WEAVER SYNDROME 2
FHL1 − 0.673851 0.01625 Four And A Half LIM Domains 1 X-LINKED: hemizygous mutation in males, biallelic mutations in females Scapuloperoneal myopathy
GATM 1.02915 0.04055 Glycine Amidinotransferase BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3,
HCFC1 0.832009 0.0466 Host Cell Factor C1 X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 3, 309,541;MENTAL RETARDATION, X-LINKED 3; MRX3
HPRT1 1.1809 0.01315 Hypoxanthine Phosphoribosyltransferase 1 X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome, 300322HPRT-related gout, 300,323;GOUT HPRT-RELATED (GOUT-HPRT)
IRF2BPL − 0.805618 0.00795 Interferon Regulatory Factor 2 Binding Protein Like MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
ISPD 1.6776 0.01625 CDP-L-Ribitol Pyrophosphorylase A BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy
KIF11 0.851313 0.0331 Kinesin Family Member 11 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted AUTOSOMAL-DOMINANT MICROCEPHALY
KLF1 0.335299 0.3098 Kruppel Like Factor 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyserythropoietic anemia, congenital, type IV,
NDUFS4 0.885125 0.03065 NADH:Ubiquinone Oxidoreductase Subunit S4 BIALLELIC, autosomal or pseudoautosomal Leigh syndrome
PAX8 3.91102 0.00095 Paired Box 8 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
RBBP8 0.802837 0.00905 RB Binding Protein 8, Endonuclease BIALLELIC, autosomal or pseudoautosomal Jawad syndrome, 251,255;Microcephaly with mental retardation
SAMHD1 0.607404 0.0341 SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1 BIALLELIC, autosomal or pseudoautosomal AICARDI-GOUTIERES SYNDROME
SMAD3 0.508352 0.0497 SMAD Family Member 3 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome, type 3, 613,795
SPTAN1 0.73025 0.0173 Spectrin Alpha, Non-Erythrocytic 1 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 (EIEE5)
TSEN34 − 0.788859 0.00405 TRNA Splicing Endonuclease Subunit 34 BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
TUBB2A − 1.36357 0.00035 Tubulin Beta 2A Class IIa MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
VRK1 0.887767 0.0193 VRK Serine/Threonine Kinase 1 BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, 607,596;PONTOCEREBELLAR HYPOPLASIA TYPE 1
WDR45 − 0.120744 0.7569 WD Repeat Domain 45 BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION