Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name MPV17 gene MPV17 Expert Review Amber;Literaure;Review Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810;Navajo neurohepatopathy;Pain insensitivity 185990;11431741;16582910;16909392;23714749;22508010 False 2 0;50;50 1.12 False ENSG00000115204 ENSG00000115204 HGNC:7224 NAGLU gene NAGLU Emory Genetics Laboratory;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Literaure;Review;UKGTN Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920;Late-onset painful sensory neuropathy, AD 25818867;12202988 False 2 0;100;0 1.12 False ENSG00000108784 ENSG00000108784 HGNC:7632