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 ATP13A2 gene ATP13A2 Expert Review Green;GeneReviews Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome (OMIM 606693) Iron accumulation in brain;HP:0012675 22743658;23447832;29325618;20310007 False 3 100;0;0 1.3 True ENSG00000159363 ENSG00000159363 HGNC:30213 BCAS3 gene BCAS3 Expert Review;Expert Review Green;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hengel-Maroofian-Schols syndrome, MIM# 619641 Iron accumulation in brain;HP:0012675 34981858 False 3 100;0;0 1.3 True ENSG00000141376 ENSG00000141376 HGNC:14347 C19orf12 gene C19orf12 Expert Review Green;GeneReviews Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial membrane protein-associated neurodegeneration (MPAN);Neurodegeneration with brain iron accumulation 4, MIM# 614298;Spastic paraplegia 43, autosomal recessive, MIM# 615043 Iron accumulation in brain;HP:0012675 33688131;21981780;22508347;23269600;31804703;30088953;20039086 False 3 100;0;0 1.3 True ENSG00000131943 ENSG00000131943 HGNC:25443 COASY gene COASY Expert Review Green;GeneReviews Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal OMIM 618266);COASY protein-associated neurodegeneration (CoPAN Iron accumulation in brain;HP:0012675 False 3 100;0;0 1.3 False ENSG00000068120 ENSG00000068120 HGNC:29932 CP gene CP Expert Review Green;GeneReviews Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aceruloplasminemia Iron accumulation in brain;HP:0012675 False 3 100;0;0 1.3 False ENSG00000047457 ENSG00000047457 HGNC:2295 DCAF17 gene DCAF17 Expert Review Green;GeneReviews Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome Iron accumulation in brain;HP:0012675 False 3 100;0;0 1.3 False ENSG00000115827 ENSG00000115827 HGNC:25784 FA2H gene FA2H Expert Review Green;GeneReviews Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fatty acid hydroxylase-associated neurodegeneration (FAHN) Iron accumulation in brain;HP:0012675 False 3 100;0;0 1.3 False ENSG00000103089 ENSG00000103089 HGNC:21197 FTH1 gene FTH1 Expert Review Green;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration with brain iron accumulation 9, MIM# 620669 Iron accumulation in brain;HP:0012675 37660254 False 3 50;50;0 1.3 True Other ENSG00000167996 ENSG00000167996 HGNC:3976 FTL gene FTL Expert Review Green;GeneReviews Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroferritinopathy Iron accumulation in brain;HP:0012675 False 3 100;0;0 1.3 False ENSG00000087086 ENSG00000087086 HGNC:3999 PANK2 gene PANK2 Expert Review Green;GeneReviews Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pantothenate kinase-associated neurodegeneration (PKAN) Iron accumulation in brain;HP:0012675 False 3 100;0;0 1.3 False ENSG00000125779 ENSG00000125779 HGNC:15894 PLA2G6 gene PLA2G6 Expert Review Green;GeneReviews Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PLA2G6-associated neurodegeneration (PLAN) Iron accumulation in brain;HP:0012675 False 3 100;0;0 1.3 False ENSG00000184381 ENSG00000184381 HGNC:9039 WDR45 gene WDR45 Expert Review Green;GeneReviews Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Beta-propeller protein-associated neurodegeneration (BPAN) Iron accumulation in brain;HP:0012675 False 3 100;0;0 1.3 False ENSG00000196998 ENSG00000196998 HGNC:28912 AP1S2 gene AP1S2 Expert list;Expert Review Amber;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pettigrew syndrome, MIM# 304340 Iron accumulation in brain;HP:0012675 23756445 False 2 50;50;0 1.3 True ENSG00000182287 ENSG00000182287 HGNC:560 AP4M1 gene AP4M1 Expert list;Expert Review Amber;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, MIM# 612936 Iron accumulation in brain;HP:0012675 29473051 False 2 50;50;0 1.3 True ENSG00000221838 ENSG00000221838 HGNC:574 ATP7B gene ATP7B Expert list;Expert Review Amber;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, MIM# 277900 Iron accumulation in brain;HP:0012675 27543917;28376267 False 2 50;50;0 1.3 True ENSG00000123191 ENSG00000123191 HGNC:870 GTPBP2 gene GTPBP2 Expert Review Amber;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome, MIM# 617988 Iron accumulation in brain;HP:0012675 26675814;29449720 False 2 50;50;0 1.3 True ENSG00000172432 ENSG00000172432 HGNC:4670 SCP2 gene SCP2 Expert Review Amber;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724;Neurodegeneration with brain iron accumulation;ataxia Iron accumulation in brain;HP:0012675 26497993;16685654 False 2 0;50;50 1.3 True ENSG00000116171 ENSG00000116171 HGNC:10606 THAP1 gene THAP1 Expert Review Amber;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cervical dystonia;dystonia;dystonic tremor Iron accumulation in brain;HP:0012675 38094642;33665847 False 2 100;0;0 1.3 True ENSG00000131931 ENSG00000131931 HGNC:20856 AFG3L2 gene AFG3L2 Expert Review Red;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive, MIM# 614487;Spinocerebellar ataxia 28, MIM# 610246 Iron accumulation in brain;HP:0012675 32237276 False 1 50;0;50 1.3 True ENSG00000141385 ENSG00000141385 HGNC:315 DDHD1 gene DDHD1 Expert Review Red;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;sensory neuropathy Iron accumulation in brain;HP:0012675 28818478 False 1 100;0;0 1.3 True ENSG00000100523 ENSG00000100523 HGNC:19714 PSEN1 gene PSEN1 Expert Review Red;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with brain iron accumulation;Frontotemporal dementia, MIM# 600274 Iron accumulation in brain;HP:0012675 28664294 False 1 0;0;100 1.3 True ENSG00000080815 ENSG00000080815 HGNC:9508 REPS1 gene REPS1 Expert Review Red;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 7 , MIM# 617916" Iron accumulation in brain;HP:0012675 29395073;40788509 False 1 0;0;100 1.3 True ENSG00000135597 ENSG00000135597 HGNC:15578 SLC27A3 gene SLC27A3 Expert Review Red;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related Iron accumulation in brain;HP:0012675 PMID: 41054338 False 1 0;0;100 1.3 True ENSG00000143554 ENSG00000143554 HGNC:10997 SQSTM1 gene SQSTM1 Expert Review Red;Literature Neurodegeneration with brain iron accumulation Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ataxia;dystonia;gaze palsy;neuroregression;cognitive decline;childhood dementia Iron accumulation in brain;HP:0012675 27545679 False 1 100;0;0 1.3 True ENSG00000161011 ENSG00000161011 HGNC:11280