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 AAAS gene AAAS Expert list;Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, MIM#231550 Developmental regression;HP:0002376 False 3 100;0;0 0.572 True ENSG00000094914 ENSG00000094914 HGNC:13666 AARS2 gene AARS2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, progressive, with ovarian failure MIM#615889 Developmental regression;HP:0002376 30706699;27839525;21549344;25058219;24808023 False 3 100;0;0 0.572 True ENSG00000124608 ENSG00000124608 HGNC:21022 ABCD1 gene ABCD1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females adrenoleukodystrophy (MONDO:0018544) Developmental regression;HP:0002376 15811009;8651290;7825602;21700483 False 3 100;0;0 0.572 True ENSG00000101986 ENSG00000101986 HGNC:61 ABHD12 gene ABHD12 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000100997 ENSG00000100997 HGNC:15868 ACER3 gene ACER3 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, progressive, early childhood-onset, MIM:617762 Developmental regression;HP:0002376 32816236;26792856;34281620 False 3 100;0;0 0.572 True ENSG00000078124 ENSG00000078124 HGNC:16066 ACO2 gene ACO2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, MIM#614559 Developmental regression;HP:0002376 22405087;25351951;30689204;32519519;25351951 False 3 100;0;0 0.572 True ENSG00000100412 ENSG00000100412 HGNC:118 ACOX1 gene ACOX1 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitchell syndrome, MIM# 618960 Developmental regression;HP:0002376 32169171;35715200 False 3 100;0;0 0.572 True ENSG00000161533 ENSG00000161533 HGNC:119 ADAR gene ADAR Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000160710 ENSG00000160710 HGNC:225 ADPRHL2 gene ADPRHL2 Expert list;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM# 618170" Developmental regression;HP:0002376 30100084;30401461 False 3 100;0;0 0.572 True ENSG00000116863 ENSG00000116863 HGNC:21304 AFG3L2 gene AFG3L2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000141385 ENSG00000141385 HGNC:315 AGTPBP1 gene AGTPBP1 Expert Review Green;NHS GMS Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy;Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 Developmental regression;HP:0002376 30420557 False 3 100;0;0 0.572 True ENSG00000135049 ENSG00000135049 HGNC:17258 AHI1 gene AHI1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIMP1 gene AIMP1 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, MIM# 260600 Developmental regression;HP:0002376 21092922;24958424;33402283;32531460;30486714;30477741 False 3 100;0;0 0.572 True ENSG00000164022 ENSG00000164022 HGNC:10648 ALDH5A1 gene ALDH5A1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000112294 ENSG00000112294 HGNC:408 ALG14 gene ALG14 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Developmental regression;HP:0002376 30221345;23404334;28733338 False 3 100;0;0 0.572 True ENSG00000172339 ENSG00000172339 HGNC:28287 AMACR gene AMACR Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000242110 ENSG00000242110 HGNC:451 ANO10 gene ANO10 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000160746 ENSG00000160746 HGNC:25519 APOPT1 gene APOPT1 Expert list;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 Developmental regression;HP:0002376 25175347 False 3 100;0;0 0.572 True ENSG00000256053 ENSG00000256053 HGNC:20492 APTX gene APTX Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARG1 gene ARG1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Argininaemia MIM#207800 Developmental regression;HP:0002376 False 3 100;0;0 0.572 True ENSG00000118520 ENSG00000118520 HGNC:663 ARSA gene ARSA Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, MIM# 250100 Developmental regression;HP:0002376 False 3 100;0;0 0.572 True ENSG00000100299 ENSG00000100299 HGNC:713 ASL gene ASL Expert list;Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 100;0;0 0.572 False ENSG00000126522 ENSG00000126522 HGNC:746 ASPA gene ASPA Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000108381 ENSG00000108381 HGNC:756 ASS1 gene ASS1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000130707 ENSG00000130707 HGNC:758 ATAD1 gene ATAD1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 100;0;0 0.572 False ENSG00000138138 ENSG00000138138 HGNC:25903 ATM gene ATM Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000149311 ENSG00000149311 HGNC:795 ATN1 gene ATN1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000111676 ENSG00000111676 HGNC:3033 ATP1A3 gene ATP1A3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP7A gene ATP7A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease MIM#309400 Developmental regression;HP:0002376 False 3 100;0;0 0.572 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8A2 gene ATP8A2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 100;0;0 0.572 False ENSG00000132932 ENSG00000132932 HGNC:13533 BCKDHA gene BCKDHA Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000083123 ENSG00000083123 HGNC:987 BCS1L gene BCS1L Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000074582 ENSG00000074582 HGNC:1020 BORCS8 gene BORCS8 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987 Developmental regression;HP:0002376 38128568 False 3 100;0;0 0.572 True ENSG00000254901 ENSG00000254901 HGNC:37247 BSCL2 gene BSCL2 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Encephalopathy, progressive, with or without lipodystrophy 615924" Developmental regression;HP:0002376 23564749;27452399 False 3 100;0;0 0.572 True ENSG00000168000 ENSG00000168000 HGNC:15832 BTD gene BTD Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf65 gene C12orf65 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000131943 ENSG00000131943 HGNC:25443 CA8 gene CA8 Expert list;Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227 Developmental regression;HP:0002376 21937992;19461874 False 3 100;0;0 0.572 True ENSG00000178538 ENSG00000178538 HGNC:1382 CACNA1A gene CACNA1A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1E gene CACNA1E Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 69 618285 Developmental regression;HP:0002376 PMID: 30343943 False 3 100;0;0 0.572 True Other ENSG00000198216 ENSG00000198216 HGNC:1392 CAD gene CAD Expert list;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 50, MIM# 616457" Developmental regression;HP:0002376 28007989;25678555 False 3 100;0;0 0.572 True ENSG00000084774 ENSG00000084774 HGNC:1424 CASK gene CASK Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000147044 ENSG00000147044 HGNC:1497 CBS gene CBS Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000160200 ENSG00000160200 HGNC:1550 CEP41 gene CEP41 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000106477 ENSG00000106477 HGNC:12370 CIAO1 gene CIAO1 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, MIM#620960 Developmental regression;HP:0002376 38411040;38196629 False 3 100;0;0 0.572 True ENSG00000144021 ENSG00000144021 HGNC:14280 CISD2 gene CISD2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000145354 ENSG00000145354 HGNC:24212 CLCN2 gene CLCN2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN6 gene CLCN6 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurodegeneration with brain iron accumulation 5, MIM# 300894" Developmental regression;HP:0002376 33217309 False 3 100;0;0 0.572 True ENSG00000011021 ENSG00000011021 HGNC:2024 CLN3 gene CLN3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000182372 ENSG00000182372 HGNC:2079 COASY gene COASY Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000068120 ENSG00000068120 HGNC:29932 COL4A1 gene COL4A1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000187498 ENSG00000187498 HGNC:2202 COQ2 gene COQ2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8A gene COQ8A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ9 gene COQ9 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 Developmental regression;HP:0002376 10767350;12928484;15455402;27290639 False 3 100;0;0 0.572 True ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 Developmental regression;HP:0002376 33746038;32232962;26959537;21412973;12474143;15235026 False 3 100;0;0 0.572 True ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000203667 ENSG00000203667 HGNC:26970 CP gene CP Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aceruloplasminaemia, MIM#604290 Developmental regression;HP:0002376 False 3 100;0;0 0.572 True ENSG00000047457 ENSG00000047457 HGNC:2295 CPS1 gene CPS1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000021826 ENSG00000021826 HGNC:2323 CSF1R gene CSF1R Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476;BANDDOS Developmental regression;HP:0002376 30982609;33749994;34135456 False 3 100;0;0 0.572 True ENSG00000182578 ENSG00000182578 HGNC:2433 CSTB gene CSTB Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 Developmental regression;HP:0002376 9012407;9054946 False 3 100;0;0 0.572 True ENSG00000160213 ENSG00000160213 HGNC:2482 CTC1 gene CTC1 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Developmental regression;HP:0002376 False 3 100;0;0 0.572 True ENSG00000178971 ENSG00000178971 HGNC:26169 CTDP1 gene CTDP1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000060069 ENSG00000060069 HGNC:2498 CTSA gene CTSA Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSD gene CTSD Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000174080 ENSG00000174080 HGNC:2531 CUL4B gene CUL4B Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000158290 ENSG00000158290 HGNC:2555 CYP27A1 gene CYP27A1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000135929 ENSG00000135929 HGNC:2605 D2HGDH gene D2HGDH Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000180902 ENSG00000180902 HGNC:28358 DARS2 gene DARS2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000117593 ENSG00000117593 HGNC:25538 DBT gene DBT Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type II (MIM#248600) Developmental regression;HP:0002376 False 3 100;0;0 0.572 True ENSG00000137992 ENSG00000137992 HGNC:2698 DCAF17 gene DCAF17 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000115827 ENSG00000115827 HGNC:25784 DDB2 gene DDB2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000134574 ENSG00000134574 HGNC:2718 DDC gene DDC Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000132437 ENSG00000132437 HGNC:2719 DKC1 gene DKC1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000130826 ENSG00000130826 HGNC:2890 DLAT gene DLAT Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000091140 ENSG00000091140 HGNC:2898 DNAJC19 gene DNAJC19 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC5 gene DNAJC5 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNMT1 gene DNMT1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000130816 ENSG00000130816 HGNC:2976 DTYMK gene DTYMK Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) Developmental regression;HP:0002376 34918187;31271740 False 3 100;0;0 0.572 True ENSG00000168393 ENSG00000168393 HGNC:3061 EEFSEC gene EEFSEC Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related Developmental regression;HP:0002376 39753114 False 3 100;0;0 0.572 True ENSG00000132394 ENSG00000132394 HGNC:24614 EIF2AK2 gene EIF2AK2 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;white matter abnormalities;ataxia;regression with febrile illness Developmental regression;HP:0002376 32197074 False 3 100;0;0 0.572 True ENSG00000055332 ENSG00000055332 HGNC:9437 EIF2B1 gene EIF2B1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000145191 ENSG00000145191 HGNC:3261 ELOVL4 gene ELOVL4 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000118402 ENSG00000118402 HGNC:14415 ELOVL5 gene ELOVL5 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000012660 ENSG00000012660 HGNC:21308 EPM2A gene EPM2A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000112425 ENSG00000112425 HGNC:3413 EPRS gene EPRS Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 15, MIM#617951 Developmental regression;HP:0002376 36411955, 29576217 False 3 100;0;0 0.572 True ENSG00000136628 ENSG00000136628 HGNC:3418 ERCC1 gene ERCC1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000049167 ENSG00000049167 HGNC:3439 ETHE1 gene ETHE1 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy , MIM#602473 Developmental regression;HP:0002376 14732903;28933811 False 3 100;0;0 0.572 True ENSG00000105755 ENSG00000105755 HGNC:23287 EXOSC3 gene EXOSC3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000107371 ENSG00000107371 HGNC:17944 FA2H gene FA2H Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000103089 ENSG00000103089 HGNC:21197 FASTKD2 gene FASTKD2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000118246 ENSG00000118246 HGNC:29160 FBXO7 gene FBXO7 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000100225 ENSG00000100225 HGNC:13586 FDXR gene FDXR Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, MIM# 617717 Developmental regression;HP:0002376 30250212;28965846;29040572;33348459;37046037;37481223 False 3 100;0;0 0.572 True ENSG00000161513 ENSG00000161513 HGNC:3642 FGF14 gene FGF14 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000102466 ENSG00000102466 HGNC:3671 FOLR1 gene FOLR1 Expert list;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Developmental regression;HP:0002376 19732866;30420205;27743887 False 3 100;0;0 0.572 True ENSG00000110195 ENSG00000110195 HGNC:3791 FOXG1 gene FOXG1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXRED1 gene FOXRED1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000110074 ENSG00000110074 HGNC:26927 FTH1 gene FTH1 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration with brain iron accumulation 9, MIM# 620669 Developmental regression;HP:0002376 37660254 False 3 50;50;0 0.572 True Other ENSG00000167996 ENSG00000167996 HGNC:3976 FTL gene FTL Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000087086 ENSG00000087086 HGNC:3999 FUCA1 gene FUCA1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fucosidosis, MIM# 230000;MONDO:0009254 Developmental regression;HP:0002376 10094192 False 3 100;0;0 0.572 True ENSG00000179163 ENSG00000179163 HGNC:4006 FXN gene FXN Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000165060 ENSG00000165060 HGNC:3951 GALC gene GALC Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000054983 ENSG00000054983 HGNC:4115 GAMT gene GAMT Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000130005 ENSG00000130005 HGNC:4136 GATM gene GATM Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, MIM# 612718 Developmental regression;HP:0002376 12468279;20682460;22386973 False 3 100;0;0 0.572 True ENSG00000171766 ENSG00000171766 HGNC:4175 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBA2 gene GBA2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, MIM# 614409;MONDO:0013737 Developmental regression;HP:0002376 23332916;23332917;29524657 False 3 100;0;0 0.572 True ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000131979 ENSG00000131979 HGNC:4193 GCLC gene GCLC Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450 Developmental regression;HP:0002376 28571779;10515893 False 3 100;0;0 0.572 True ENSG00000001084 ENSG00000001084 HGNC:4311 GFAP gene GFAP Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000131095 ENSG00000131095 HGNC:4235 GLA gene GLA Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000170266 ENSG00000170266 HGNC:4298 GNS gene GNS Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000135677 ENSG00000135677 HGNC:4422 GOSR2 gene GOSR2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000108433 ENSG00000108433 HGNC:4431 GRID2 gene GRID2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000152208 ENSG00000152208 HGNC:4576 GRM1 gene GRM1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000152822 ENSG00000152822 HGNC:4593 H3F3A gene H3F3A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;regression;seizures Developmental regression;HP:0002376 33268356 False 3 100;0;0 0.572 True ENSG00000163041 ENSG00000163041 HGNC:4764 H3F3B gene H3F3B Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;regression;seizures Developmental regression;HP:0002376 33268356 False 3 100;0;0 0.572 True ENSG00000132475 ENSG00000132475 HGNC:4765 HEXA gene HEXA Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000049860 ENSG00000049860 HGNC:4879 HGSNAT gene HGSNAT Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930;MONDO:0009657 Developmental regression;HP:0002376 19479962;31228227;20825431;20583299 False 3 100;0;0 0.572 True ENSG00000165102 ENSG00000165102 HGNC:26527 HIBCH gene HIBCH Expert list;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620" Developmental regression;HP:0002376 26026795;25251209;24299452;32677093 False 3 100;0;0 0.572 True ENSG00000198130 ENSG00000198130 HGNC:4908 HLCS gene HLCS Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMBS gene HMBS Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, porphyria-related MIM#620704;Leukoencephalopathy, porphyria-related, MIM#620711 Developmental regression;HP:0002376 False 3 100;0;0 0.572 True ENSG00000256269 ENSG00000256269 HGNC:4982 HPDL gene HPDL Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026;Progressive neurological disorder;Leigh-like syndrome Developmental regression;HP:0002376 32707086 False 3 100;0;0 0.572 True ENSG00000186603 ENSG00000186603 HGNC:28242 HPRT1 gene HPRT1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000165704 ENSG00000165704 HGNC:5157 HSD17B10 gene HSD17B10 Expert Review;Expert Review Green Regression 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) HSD10 mitochondrial disease, MIM# 300438 Developmental regression;HP:0002376 False 3 100;0;0 0.572 True ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B4 gene HSD17B4 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000133835 ENSG00000133835 HGNC:5213 HTRA1 gene HTRA1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000166033 ENSG00000166033 HGNC:9476 IFIH1 gene IFIH1 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aicardi-Goutieres syndrome 7, MIM#615846 Developmental regression;HP:0002376 24686847 False 3 100;0;0 0.572 True Other ENSG00000115267 ENSG00000115267 HGNC:18873 IREB2 gene IREB2 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 Developmental regression;HP:0002376 30915432;31243445;11175792;35602653 False 3 100;0;0 0.572 True ENSG00000136381 ENSG00000136381 HGNC:6115 IRF2BPL gene IRF2BPL Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088" Developmental regression;HP:0002376 PMID: 30057031;30166628 False 3 100;0;0 0.572 True ENSG00000119669 ENSG00000119669 HGNC:14282 ISCA1 gene ISCA1 Expert list;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613" Developmental regression;HP:0002376 28356563;32092383;31016283;30113620;30105122 False 3 100;0;0 0.572 True ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370 Developmental regression;HP:0002376 25539947;29297947;29122497;29359243 False 3 100;0;0 0.572 True ENSG00000165898 ENSG00000165898 HGNC:19857 ITM2B gene ITM2B Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000136156 ENSG00000136156 HGNC:6174 ITPR1 gene ITPR1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000150995 ENSG00000150995 HGNC:6180 IVD gene IVD Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000128928 ENSG00000128928 HGNC:6186 KCNA1 gene KCNA1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNC3 gene KCNC3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000131398 ENSG00000131398 HGNC:6235 KCND3 gene KCND3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNJ10 gene KCNJ10 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCTD7 gene KCTD7 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726) Developmental regression;HP:0002376 False 3 100;0;0 0.572 True ENSG00000243335 ENSG00000243335 HGNC:21957 KIF1A gene KIF1A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF7 gene KIF7 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000166813 ENSG00000166813 HGNC:30497 L2HGDH gene L2HGDH Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAMA1 gene LAMA1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000101680 ENSG00000101680 HGNC:6481 LETM1 gene LETM1 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Developmental regression;HP:0002376 36055214 False 3 100;0;0 0.572 True ENSG00000168924 ENSG00000168924 HGNC:6556 LIAS gene LIAS Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000121897 ENSG00000121897 HGNC:16429 LMNB1 gene LMNB1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000113368 ENSG00000113368 HGNC:6637 LNPK gene LNPK Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090 Developmental regression;HP:0002376 PMID: 35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true False 3 100;0;0 0.572 True ENSG00000144320 ENSG00000144320 HGNC:21610 LRPPRC gene LRPPRC Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000138095 ENSG00000138095 HGNC:15714 LRRK2 gene LRRK2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000188906 ENSG00000188906 HGNC:18618 MAN2B1 gene MAN2B1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, MIM# 248500;MONDO:0009561 Developmental regression;HP:0002376 False 3 100;0;0 0.572 True ENSG00000104774 ENSG00000104774 HGNC:6826 MAPT gene MAPT Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000186868 ENSG00000186868 HGNC:6893 MARS2 gene MARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000247626 ENSG00000247626 HGNC:25133 MCEE gene MCEE Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000124370 ENSG00000124370 HGNC:16732 MECP2 gene MECP2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000169057 ENSG00000169057 HGNC:6990 MFSD8 gene MFSD8 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7, MIM# 610951;MONDO:0012588 Developmental regression;HP:0002376 17564970;19201763 False 3 100;0;0 0.572 True ENSG00000164073 ENSG00000164073 HGNC:28486 MMAA gene MMAA Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000168288 ENSG00000168288 HGNC:25221 MRE11 gene MRE11 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000020922 ENSG00000020922 HGNC:7230 MTHFR gene MTHFR Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTTP gene MTTP Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000138823 ENSG00000138823 HGNC:7467 MUT gene MUT Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000146085 ENSG00000146085 HGNC:7526 NAA60 gene NAA60 Expert Review Green;Other Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786 Developmental regression;HP:0002376 False 3 100;0;0 0.572 True ENSG00000122390 ENSG00000122390 HGNC:25875 NAE1 gene NAE1 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210 Developmental regression;HP:0002376 36608681 False 3 100;0;0 0.572 True ENSG00000159593 ENSG00000159593 HGNC:621 NAGLU gene NAGLU Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000108784 ENSG00000108784 HGNC:7632 NAXD gene NAXD Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 Developmental regression;HP:0002376 30576410 False 3 100;0;0 0.572 True ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 Developmental regression;HP:0002376 27122014;27616477;31758406 False 3 100;0;0 0.572 True ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFA1 gene NDUFA1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 Developmental regression;HP:0002376 21150889;26741492;28247337 False 3 100;0;0 0.572 True ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA12 gene NDUFA12 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23 618244 Developmental regression;HP:0002376 21617257;33715266 False 3 100;0;0 0.572 True ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA2 gene NDUFA2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Developmental regression;HP:0002376 28857146;32154054;18513682 False 3 100;0;0 0.572 True ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF2 gene NDUFAF2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233 Developmental regression;HP:0002376 33528536;34364746;16200211;19384974;20571988 False 3 100;0;0 0.572 True ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240 Developmental regression;HP:0002376 27986404;29344937;19463981 False 3 100;0;0 0.572 True ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF5 gene NDUFAF5 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFS1 gene NDUFS1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 Developmental regression;HP:0002376 33751534;24952175;20382551;21203893;20797884;15824269;25615419;11349233;22399432 False 3 100;0;0 0.572 True ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 Developmental regression;HP:0002376 28031252;31411514;22036843;20819849;11220739;23266820;31411514 False 3 100;0;0 0.572 True ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Developmental regression;HP:0002376 22499348;30140060;14729820;33097395 False 3 100;0;0 0.572 True ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229 Developmental regression;HP:0002376 33811136;34405929;12754703;26008862;30770271;19167255 False 3 100;0;0 0.572 True ENSG00000178127 ENSG00000178127 HGNC:7717 NEU1 gene NEU1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000204386 ENSG00000204386 HGNC:7758 NHLRC1 gene NHLRC1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 254780 Developmental regression;HP:0002376 21505799;12958597 False 3 100;0;0 0.572 True ENSG00000187566 ENSG00000187566 HGNC:21576 NHLRC2 gene NHLRC2 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278 Developmental regression;HP:0002376 29423877;32435055 False 3 100;0;0 0.572 True ENSG00000196865 ENSG00000196865 HGNC:24731 NOTCH3 gene NOTCH3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000074181 ENSG00000074181 HGNC:7883 NPC1 gene NPC1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP1 gene NPHP1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000144061 ENSG00000144061 HGNC:7905 NRROS gene NRROS Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodegeneration;intracranial calcification;epilepsy Developmental regression;HP:0002376 32100099 False 3 100;0;0 0.572 True ENSG00000174004 ENSG00000174004 HGNC:24613 NUBPL gene NUBPL Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242 Developmental regression;HP:0002376 20818383;32518176;23553477;31917109;32518176;31787496;30897263;22826544 False 3 100;0;0 0.572 True ENSG00000151413 ENSG00000151413 HGNC:20278 NUP214 gene NUP214 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426;epileptic encephalopathy;developmental regression;microcephaly Developmental regression;HP:0002376 31178128;30758658 False 3 100;0;0 0.572 True ENSG00000126883 ENSG00000126883 HGNC:8064 OFD1 gene OFD1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000046651 ENSG00000046651 HGNC:2567 OPA1 gene OPA1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPHN1 gene OPHN1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000079482 ENSG00000079482 HGNC:8148 OTC gene OTC Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000036473 ENSG00000036473 HGNC:8512 PANK2 gene PANK2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARK7 gene PARK7 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000116288 ENSG00000116288 HGNC:16369 PC gene PC Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCCA gene PCCA Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000114054 ENSG00000114054 HGNC:8654 PDGFB gene PDGFB Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000100311 ENSG00000100311 HGNC:8800 PDGFRB gene PDGFRB Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000113721 ENSG00000113721 HGNC:8804 PDHA1 gene PDHA1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDP1 gene PDP1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS2 gene PDSS2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000164494 ENSG00000164494 HGNC:23041 PDYN gene PDYN Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000101327 ENSG00000101327 HGNC:8820 PEX7 gene PEX7 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000107537 ENSG00000107537 HGNC:8940 PLA2G6 gene PLA2G6 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLP1 gene PLP1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000123560 ENSG00000123560 HGNC:9086 PMM2 gene PMM2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCB gene PMPCB Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000105819 ENSG00000105819 HGNC:9119 PNPLA6 gene PNPLA6 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000032444 ENSG00000032444 HGNC:16268 POLG gene POLG Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000256525 ENSG00000256525 HGNC:9180 POLR3A gene POLR3A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000013503 ENSG00000013503 HGNC:30348 POLR3K gene POLR3K Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating leukodystrophy-21, MIM#619310 Developmental regression;HP:0002376 30584594;33659930;https://doi.org/10.1155/2024/8807171 False 3 100;0;0 0.572 True ENSG00000161980 ENSG00000161980 HGNC:14121 PPT1 gene PPT1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRKN gene PRKN Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRPS1 gene PRPS1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRRT2 gene PRRT2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000167371 ENSG00000167371 HGNC:30500 PSAP gene PSAP Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSMF1 gene PSMF1 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Developmental regression;HP:0002376 https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1 False 3 100;0;0 0.572 True ENSG00000125818 ENSG00000125818 HGNC:9571 PTPN23 gene PTPN23 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000076201 ENSG00000076201 HGNC:14406 PTS gene PTS Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000150787 ENSG00000150787 HGNC:9689 RARS2 gene RARS2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000146282 ENSG00000146282 HGNC:21406 RNASEH2A gene RNASEH2A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNF13 gene RNF13 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epileptic encephalopathy, early infantile, 73, MIM# 618379" Developmental regression;HP:0002376 30595371 False 3 100;0;0 0.572 True Other ENSG00000082996 ENSG00000082996 HGNC:10057 RNF216 gene RNF216 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000011275 ENSG00000011275 HGNC:21698 RNH1 gene RNH1 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, RNH1-related;{Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461 Developmental regression;HP:0002376 PMID: 36935417;37191094 False 3 33;0;67 0.572 True ENSG00000023191 ENSG00000023191 HGNC:10074 RNU7-1 gene RNU7-1 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9, MIM# 619487 Developmental regression;HP:0002376 33230297 False 3 100;0;0 0.572 True ENSG00000238923 ENSG00000238923 HGNC:34033 RPGRIP1L gene RPGRIP1L Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000103494 ENSG00000103494 HGNC:29168 RRM2B gene RRM2B Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000048392 ENSG00000048392 HGNC:17296 SACS gene SACS Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000151835 ENSG00000151835 HGNC:10519 SAMHD1 gene SAMHD1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000101347 ENSG00000101347 HGNC:15925 SATB1 gene SATB1 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kohlschutter-Tonz syndrome-like, MIM# 619229;Neurodevelopmental disorder;regression Developmental regression;HP:0002376 PMID: 33513338;33057194 False 3 100;0;0 0.572 True Other ENSG00000182568 ENSG00000182568 HGNC:10541 SCARB2 gene SCARB2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000138760 ENSG00000138760 HGNC:1665 SCN3A gene SCN3A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000153253 ENSG00000153253 HGNC:10590 SCO2 gene SCO2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000130489 ENSG00000130489 HGNC:10604 SEPSECS gene SEPSECS Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000109618 ENSG00000109618 HGNC:30605 SERPINI1 gene SERPINI1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 Developmental regression;HP:0002376 28631894;25401298;12103288 False 3 100;0;0 0.572 True ENSG00000163536 ENSG00000163536 HGNC:8943 SETX gene SETX Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000107290 ENSG00000107290 HGNC:445 SGSH gene SGSH Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000181523 ENSG00000181523 HGNC:10818 SHANK3 gene SHANK3 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phelan-McDermid syndrome, MIM# 606232;MONDO:0011652 Developmental regression;HP:0002376 32050889, 29719671 False 3 100;0;0 0.572 True ENSG00000251322 ENSG00000251322 HGNC:14294 SIL1 gene SIL1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC17A5 gene SLC17A5 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC19A3 gene SLC19A3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC25A15 gene SLC25A15 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A4 gene SLC25A4 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A42 gene SLC25A42 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416 Developmental regression;HP:0002376 26541337;29327420;29923093;34258143 False 3 100;0;0 0.572 True ENSG00000181035 ENSG00000181035 HGNC:28380 SLC2A1 gene SLC2A1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC30A10 gene SLC30A10 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, MIM# 613280 Developmental regression;HP:0002376 22341972;22341971;29193034 False 3 100;0;0 0.572 True ENSG00000196660 ENSG00000196660 HGNC:25355 SLC33A1 gene SLC33A1 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482 Developmental regression;HP:0002376 31194315 False 3 100;0;0 0.572 True ENSG00000169359 ENSG00000169359 HGNC:95 SLC39A14 gene SLC39A14 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2, MIM# 617013 Developmental regression;HP:0002376 27231142;29685658 False 3 100;0;0 0.572 True ENSG00000104635 ENSG00000104635 HGNC:20858 SLC44A1 gene SLC44A1 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset neurodegeneration;progressive ataxia;tremor;cognitive decline;dysphagia;optic atrophy;dysarthria Developmental regression;HP:0002376 31855247 False 3 100;0;0 0.572 True ENSG00000070214 ENSG00000070214 HGNC:18798 SLC5A6 gene SLC5A6 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Developmental delay;epilepsy;neurodegeneration;Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973" Developmental regression;HP:0002376 31754459;27904971 False 3 100;0;0 0.572 True ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A19 gene SLC6A19 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A3 gene SLC6A3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A8 gene SLC6A8 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC9A6 gene SLC9A6 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000198689 ENSG00000198689 HGNC:11079 SOD1 gene SOD1 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia and axial hypotonia, progressive, MIM#618598 Developmental regression;HP:0002376 PMID: 31314961;31332433;34788402 False 3 100;0;0 0.572 True ENSG00000142168 ENSG00000142168 HGNC:11179 SPG11 gene SPG11 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive, MIM#604360;Charcot-Marie-Tooth disease, axonal, type 2X, MIM#616668;Amyotrophic lateral sclerosis 5, juvenile, MIM#602099 Developmental regression;HP:0002376 21381113;22554690;19224311;18067136;27820618 False 3 100;0;0 0.572 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPR gene SPR Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTBN2 gene SPTBN2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000173898 ENSG00000173898 HGNC:11276 SQSTM1 gene SQSTM1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Developmental regression;HP:0002376 27545679 False 3 100;0;0 0.572 True ENSG00000161011 ENSG00000161011 HGNC:11280 ST3GAL5 gene ST3GAL5 Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome 609056;GM3 synthase deficiency, MONDO:0018274;Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Developmental regression;HP:0002376 23436467;22990144;15502825;27232954;30691927;30688114;30576498 False 3 100;0;0 0.572 True ENSG00000115525 ENSG00000115525 HGNC:10872 STUB1 gene STUB1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000103266 ENSG00000103266 HGNC:11427 SUCLA2 gene SUCLA2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUMF1 gene SUMF1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000144455 ENSG00000144455 HGNC:20376 SURF1 gene SURF1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000148290 ENSG00000148290 HGNC:11474 SYNE1 gene SYNE1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYNJ1 gene SYNJ1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000159082 ENSG00000159082 HGNC:11503 TBCD gene TBCD Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Developmental regression;HP:0002376 27666370;27666374 False 3 100;0;0 0.572 True ENSG00000141556 ENSG00000141556 HGNC:11581 TBCE gene TBCE Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, with amyotrophy and optic atrophy 617207 Developmental regression;HP:0002376 PMID: 27666369 False 3 100;0;0 0.572 True ENSG00000116957 ENSG00000116957 HGNC:11582 TCF4 gene TCF4 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000196628 ENSG00000196628 HGNC:11634 TCTN3 gene TCTN3 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000119977 ENSG00000119977 HGNC:24519 TH gene TH Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000180176 ENSG00000180176 HGNC:11782 TIMM8A gene TIMM8A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000126953 ENSG00000126953 HGNC:11817 TMEM240 gene TMEM240 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000205090 ENSG00000205090 HGNC:25186 TOR1A gene TOR1A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000136827 ENSG00000136827 HGNC:3098 TPK1 gene TPK1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000196511 ENSG00000196511 HGNC:17358 TPP1 gene TPP1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2, MIM# 204500;MONDO:0008769 Developmental regression;HP:0002376 9295267;18684116;23418007;26224725;31283065 False 3 100;0;0 0.572 True ENSG00000166340 ENSG00000166340 HGNC:2073 TRAK1 gene TRAK1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000182606 ENSG00000182606 HGNC:29947 TRAPPC11 gene TRAPPC11 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000168538 ENSG00000168538 HGNC:25751 TRAPPC12 gene TRAPPC12 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669 Developmental regression;HP:0002376 32369837;28777934 False 3 100;0;0 0.572 True ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC6B gene TRAPPC6B Expert Review;Expert Review Green Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Developmental regression;HP:0002376 28626029;28397838;31687267 False 3 100;0;0 0.572 True ENSG00000182400 ENSG00000182400 HGNC:23066 TREX1 gene TREX1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000213689 ENSG00000213689 HGNC:12269 TSEN2 gene TSEN2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000182173 ENSG00000182173 HGNC:27561 TTBK2 gene TTBK2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000128881 ENSG00000128881 HGNC:19141 TTPA gene TTPA Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000137561 ENSG00000137561 HGNC:12404 TTR gene TTR Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000118271 ENSG00000118271 HGNC:12405 TUBB4A gene TUBB4A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000104833 ENSG00000104833 HGNC:20774 TWNK gene TWNK Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYROBP gene TYROBP Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000011600 ENSG00000011600 HGNC:12449 UBE3A gene UBE3A Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000114062 ENSG00000114062 HGNC:12496 UBQLN2 gene UBQLN2 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000188021 ENSG00000188021 HGNC:12509 UBTF gene UBTF Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672;MONDO:0044701 Developmental regression;HP:0002376 28777933;29300972 False 3 100;0;0 0.572 True ENSG00000108312 ENSG00000108312 HGNC:12511 UCHL1 gene UCHL1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 79, autosomal recessive, MIM# 615491;MONDO:0014209;Neurodegenerative disease, MONDO:0005559, UCHL1-related Developmental regression;HP:0002376 23359680;3340629;28007905;32656641;29735986;28007905;35986737 False 3 100;0;0 0.572 True ENSG00000154277 ENSG00000154277 HGNC:12513 UQCRB gene UQCRB Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000156467 ENSG00000156467 HGNC:12582 VAC14 gene VAC14 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, childhood-onset, MIM#617054 Developmental regression;HP:0002376 27292112;31392254;31591492;31387860;31876398 False 3 100;0;0 0.572 True ENSG00000103043 ENSG00000103043 HGNC:25507 VLDLR gene VLDLR Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS41 gene VPS41 Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia-29 (SCAR29), MIM#619389;Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay Developmental regression;HP:0002376 32808683;33764426 False 3 100;0;0 0.572 True ENSG00000006715 ENSG00000006715 HGNC:12713 VPS53 gene VPS53 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000141252 ENSG00000141252 HGNC:25608 VRK1 gene VRK1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000100749 ENSG00000100749 HGNC:12718 WDR45 gene WDR45 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR81 gene WDR81 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000167716 ENSG00000167716 HGNC:26600 WFS1 gene WFS1 Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000109501 ENSG00000109501 HGNC:12762 WWOX gene WWOX Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000186153 ENSG00000186153 HGNC:12799 XPA gene XPA Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Green;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 3 0;0;0 0.572 False ENSG00000154767 ENSG00000154767 HGNC:12816 ATP2B3 gene ATP2B3 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinocerebellar ataxia, X-linked 1, MIM#302500 Developmental regression;HP:0002376 22912398;27653636;27632770 False 2 0;100;0 0.572 True ENSG00000067842 ENSG00000067842 HGNC:816 CACNB4 gene CACNB4 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 5, MIM#613855 Developmental regression;HP:0002376 10762541;9628818;27003325 False 2 0;100;0 0.572 True ENSG00000182389 ENSG00000182389 HGNC:1404 CAPRIN1 gene CAPRIN1 Expert Review;Expert Review Amber Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 Developmental regression;HP:0002376 36136249 False 2 0;100;0 0.572 True ENSG00000135387 ENSG00000135387 HGNC:6743 CCDC88C gene CCDC88C Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 40, MIM#616053 Developmental regression;HP:0002376 25062847;30398676 False 2 0;100;0 0.572 True ENSG00000015133 ENSG00000015133 HGNC:19967 CHMP3 gene CHMP3 Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Developmental regression;HP:0002376 PMID: 35710109 False 2 0;100;0 0.572 True ENSG00000115561 ENSG00000115561 HGNC:29865 COX14 gene COX14 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053 Developmental regression;HP:0002376 22243966 False 2 0;100;0 0.572 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX4I1 gene COX4I1 Expert list;Expert Review Amber Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 Developmental regression;HP:0002376 28766551;22592081;31290619 False 2 0;100;0 0.572 True ENSG00000131143 ENSG00000131143 HGNC:2265 COX6B1 gene COX6B1 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Developmental regression;HP:0002376 18499082;24781756 False 2 0;100;0 0.572 True ENSG00000126267 ENSG00000126267 HGNC:2280 CRAT gene CRAT Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 8, MIM# 617917;Leigh syndrome" Developmental regression;HP:0002376 29395073;31448845 False 2 0;100;0 0.572 True ENSG00000095321 ENSG00000095321 HGNC:2342 FBP2 gene FBP2 Expert list;Expert Review Amber Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, childhood-onset, remitting, MIM# 619864 Developmental regression;HP:0002376 33977262 False 2 0;100;0 0.572 True ENSG00000130957 ENSG00000130957 HGNC:3607 MTPAP gene MTPAP Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perinatal lethal encephalopathy;Spastic ataxia 4, autosomal recessive, MIM#613672 Developmental regression;HP:0002376 31779033 False 2 0;100;0 0.572 True ENSG00000107951 ENSG00000107951 HGNC:25532 NDUFA9 gene NDUFA9 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247 Developmental regression;HP:0002376 26425749;28671271;22114105 False 2 50;50;0 0.572 True ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234 Developmental regression;HP:0002376 17557076;21931170;16218961;24963768;34975718 False 2 50;50;0 0.572 True ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF4 gene NDUFAF4 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237 Developmental regression;HP:0002376 32949790;28853723;18179882 False 2 0;100;0 0.572 True ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFS6 gene NDUFS6 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232 Developmental regression;HP:0002376 15372108;19259137;30948790;27290639;28429146 False 2 0;100;0 0.572 True ENSG00000145494 ENSG00000145494 HGNC:7713 NUP62 gene NUP62 Expert Review;Expert Review Amber Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile, MIM#271930 Developmental regression;HP:0002376 16786527 False 2 50;50;0 0.572 True ENSG00000213024 ENSG00000213024 HGNC:8066 RPIA gene RPIA Expert Review;Expert Review Amber Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal RPIA (ribose 5-phosphate isomerase A) Developmental regression;HP:0002376 14988808;10589548;20499043;28801340;30088433 False 2 0;100;0 0.572 True ENSG00000153574 ENSG00000153574 HGNC:10297 SHQ1 gene SHQ1 Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dystonia and seizures, MIM# 619922 Developmental regression;HP:0002376 34542157;29178645 False 2 0;100;0 0.572 True ENSG00000144736 ENSG00000144736 HGNC:25543 SLC31A1 gene SLC31A1 Expert Review;Expert Review Amber Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Developmental regression;HP:0002376 35913762;36562171 False 2 0;100;0 0.572 True ENSG00000136868 ENSG00000136868 HGNC:11016 STX1A gene STX1A Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodevelopmental disorder MONDO#0700092, STX1A-related Developmental regression;HP:0002376 False 2 0;100;0 0.572 True ENSG00000106089 ENSG00000106089 HGNC:11433 TACO1 gene TACO1 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052 Developmental regression;HP:0002376 19503089;20727754;25044680;27319982 False 2 0;100;0 0.572 True ENSG00000136463 ENSG00000136463 HGNC:24316 TCEAL1 gene TCEAL1 Expert Review Amber;Literature Regression 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) Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094 Developmental regression;HP:0002376 PMID: 36368327 False 2 0;100;0 0.572 True ENSG00000172465 ENSG00000172465 HGNC:11616 ZDHHC16 gene ZDHHC16 Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, ZDHHC16-related Developmental regression;HP:0002376 39313616 False 2 0;100;0 0.572 True ENSG00000171307 ENSG00000171307 HGNC:20714 NIID str NOTCH2NL Expert Review Green;Literature Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronal intranuclear inclusion disease MIM#603472;Oculopharyngodistal myopathy 3 MIM#619473;Tremor, hereditary essential, 6 MIM#618866 Developmental regression;HP:0002376 31178126;31332381;31819945;33887199;33943039;32250060;31332380;32852534;32989102;34333668 False 3 100;0;0 0.572 True ENSG00000213240 ENSG00000264343 HGNC:31862 1 145209324 145209344 149390803 149390829 GGC 40 60 SCA17 str TBP Expert Review Green;Expert list Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17 MIM#607136 Developmental regression;HP:0002376 10484774;20301611;29325606 False 3 100;0;0 0.572 True ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 40 49 SCA36 str NOP56 Expert Review Green;Expert list Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 36 MIM#614153 Developmental regression;HP:0002376 21683323 False 3 100;0;0 0.572 True ENSG00000101361 ENSG00000101361 HGNC:15911 20 2633380 2633403 2652734 2652757 GGCCTG 14 650