Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 Biomarker disease BEFREE POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene. 31577365 2019
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 Biomarker disease BEFREE A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay, POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia. 30548255 2019
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 GeneticVariation disease BEFREE To determine if other POLR3-HLD mutations can cause a leukodystrophy phenotype in mouse, we characterized mice carrying the Polr3b mutation c.308G > A (p.Arg103His). 31221184 2019
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 Biomarker disease BEFREE Next generation sequencing leukodystrophy panel including POLR3A and POLR3B was negative. 31368241 2019
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 Biomarker disease BEFREE POLR3B, which encodes the second largest subunit of RNA polymerase III (pol III), and POLR3A, which forms the pol III catalytic centre, are associated with 4H leucodystrophy. 27512013 2017
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 GeneticVariation disease BEFREE Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts. 26478204 2017
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 GeneticVariation disease BEFREE Variants in three other RNA polymerase subunits, POLR1C, POLR3A and POLR3B, are known to cause recessive leukodystrophy similar to the disease afflicting the present family but with a later onset. 28051070 2017
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 Biomarker disease BEFREE POLR3-related leukodystrophy is diagnosed by the combination of classic clinical findings, typical brain MRI features, and the presence of biallelic pathogenic variants in <i>POLR3A</i>, <i>POLR3B,</i> or <i>POLR1C</i>. 28486794 2017
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 GeneticVariation disease BEFREE Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. 26045207 2015
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 GeneticVariation disease BEFREE This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. 26011300 2015
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 GeneticVariation disease BEFREE The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogonadism, but the recent identification of two genes (POLR3A and POLR3B) responsible for the syndrome demonstrates that these three main characteristics can be variably combined among "Pol-III (polymerase III)-related leukodystrophies." 26204956 2015
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 GeneticVariation disease BEFREE A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A and POLR3B. 26151409 2015
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 Biomarker disease BEFREE The objectives of this study are (1) to define the neuroradiologic pattern in a cohort of POLR3A and POLR3B subjects and (2) to compare the neuroradiologic pattern of Pol III-related leukodystrophies with other hypomyelinating disorders. 24105487 2014
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 Biomarker disease BEFREE Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth. 24190003 2013
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 GeneticVariation disease BEFREE Our aim was to investigate the presence and frequency of POLR3A and POLR3B mutations in patients with genetically unexplained hypomyelinating leukodystrophies with typical clinical and/or radiologic features of Pol III-related leukodystrophies. 23355746 2013
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 GeneticVariation disease BEFREE Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. 22036172 2011
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.200 Biomarker disease HPO