Table 5.
Dysregulated ID genes in POLR3B mutated patients
| 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 |