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 ADAR gene ADAR Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010 27159321;25527826;28334938;20301621;24357685 False 1 40;40;20 3.24 False ENSG00000160710 ENSG00000160710 HGNC:225 ASPA gene ASPA Expert list;Expert Review Red Adult onset leukodystrophy BIALLELIC, autosomal or pseudoautosomal Canavan disease, OMIM:271900 Canavan disease, MIM# 271900 False 1 100;0;0 3.24 False ENSG00000108381 ENSG00000108381 HGNC:756 CYP7B1 gene CYP7B1 Expert list;Expert Review Red Adult onset leukodystrophy BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive , OMIM:270800 19187859;19439420;24117163 False 1 50;50;0 3.24 False ENSG00000172817 ENSG00000172817 HGNC:2652 MAN2B1 gene MAN2B1 Expert list;Expert Review Red Adult onset leukodystrophy BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, OMIM:248500 15534274;26212233;33317989 False 1 50;0;50 3.24 False ENSG00000104774 ENSG00000104774 HGNC:6826