PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Prepair 500+ v2.0 Zornitza Stark promoted panel to version 2.0
Prepair 500+ v1.1145 SLC12A6 Zornitza Stark Marked gene: SLC12A6 as ready
Prepair 500+ v1.1145 SLC12A6 Zornitza Stark Gene: slc12a6 has been classified as Green List (High Evidence).
Prepair 500+ v1.1145 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) to Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000
Prepair 500+ v1.1144 SLC12A6 Zornitza Stark Publications for gene: SLC12A6 were set to
Prepair 500+ v1.1143 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Prepair 500+ v1.1143 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Prepair 500+ v1.1143 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, 608091 (3) to Joubert syndrome 2, MIM#608091; Meckel syndrome 2, MIM#603194; Retinitis pigmentosa 98, MIM#620996; ciliopathy MONDO:0005308
Prepair 500+ v1.1142 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Prepair 500+ v1.1141 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Prepair 500+ v1.1141 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Green List (High Evidence).
Prepair 500+ v1.1141 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from Joubert syndrome 16, 614465 (3) to Joubert syndrome 16, MIM#614465
Prepair 500+ v1.1140 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Prepair 500+ v1.1139 TK2 Zornitza Stark Marked gene: TK2 as ready
Prepair 500+ v1.1139 TK2 Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1139 TK2 Zornitza Stark Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560
Prepair 500+ v1.1138 TK2 Zornitza Stark Publications for gene: TK2 were set to
Prepair 500+ v1.1137 THOC2 Zornitza Stark Marked gene: THOC2 as ready
Prepair 500+ v1.1137 THOC2 Zornitza Stark Gene: thoc2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1137 THOC2 Zornitza Stark Phenotypes for gene: THOC2 were changed from Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive to Intellectual developmental disorder, X-linked 12 MIM#300957
Prepair 500+ v1.1136 THOC2 Zornitza Stark Publications for gene: THOC2 were set to
Prepair 500+ v1.1135 TH Zornitza Stark Marked gene: TH as ready
Prepair 500+ v1.1135 TH Zornitza Stark Gene: th has been classified as Green List (High Evidence).
Prepair 500+ v1.1135 TH Zornitza Stark Phenotypes for gene: TH were changed from Segawa syndrome, recessive, MIM# 605407 to Segawa syndrome, recessive, MIM# 605407
Prepair 500+ v1.1134 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Prepair 500+ v1.1134 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1134 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 (3) to Ichthyosis, congenital, autosomal recessive 1, MIM#242300
Prepair 500+ v1.1133 TGM1 Zornitza Stark Publications for gene: TGM1 were set to
Prepair 500+ v1.1132 TF Zornitza Stark Marked gene: TF as ready
Prepair 500+ v1.1132 TF Zornitza Stark Gene: tf has been classified as Green List (High Evidence).
Prepair 500+ v1.1132 TF Zornitza Stark Phenotypes for gene: TF were changed from Atransferrinemia, 209300 (3) to Atransferrinaemia MIM#209300
Prepair 500+ v1.1131 TF Zornitza Stark Publications for gene: TF were set to
Prepair 500+ v1.1130 TELO2 Zornitza Stark Marked gene: TELO2 as ready
Prepair 500+ v1.1130 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1130 TELO2 Zornitza Stark Phenotypes for gene: TELO2 were changed from You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive to You-Hoover-Fong syndrome, MIM#616954
Prepair 500+ v1.1129 TECPR2 Zornitza Stark Marked gene: TECPR2 as ready
Prepair 500+ v1.1129 TECPR2 Zornitza Stark Gene: tecpr2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1129 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Prepair 500+ v1.1129 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Prepair 500+ v1.1129 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from Joubert syndrome 18, 614815 (3) to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; MONDO:0009794
Prepair 500+ v1.1128 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Prepair 500+ v1.1127 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Prepair 500+ v1.1127 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1127 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from Joubert syndrome 24 to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Prepair 500+ v1.1126 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Prepair 500+ v1.1125 TCN2 Zornitza Stark Marked gene: TCN2 as ready
Prepair 500+ v1.1125 TCN2 Zornitza Stark Gene: tcn2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1125 TCN2 Zornitza Stark Phenotypes for gene: TCN2 were changed from Transcobalamin II deficiency, 275350 (3) to Transcobalamin II deficiency MIM#275350
Prepair 500+ v1.1124 TCN2 Zornitza Stark Publications for gene: TCN2 were set to
Prepair 500+ v1.1123 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Prepair 500+ v1.1123 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1123 TCIRG1 Zornitza Stark Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1, 259700 (3) to Osteopetrosis, autosomal recessive 1 MIM#259700
Prepair 500+ v1.1122 TCIRG1 Zornitza Stark Publications for gene: TCIRG1 were set to
Prepair 500+ v1.1121 TBCE Zornitza Stark Marked gene: TBCE as ready
Prepair 500+ v1.1121 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Prepair 500+ v1.1121 TBCE Zornitza Stark Phenotypes for gene: TBCE were changed from Kenny-Caffey syndrome-1, 244460 (3) to Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207; Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410; Kenny-Caffey syndrome, type 1 MIM#244460
Prepair 500+ v1.1120 TBCE Zornitza Stark Publications for gene: TBCE were set to
Prepair 500+ v1.1119 TBCD Zornitza Stark Marked gene: TBCD as ready
Prepair 500+ v1.1119 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Prepair 500+ v1.1119 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Prepair 500+ v1.1118 TBCD Zornitza Stark Publications for gene: TBCD were set to
Prepair 500+ v1.1117 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Prepair 500+ v1.1117 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Prepair 500+ v1.1117 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from Epileptic encephalopathy, early infantile, 16, 615338 (3) to Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021
Prepair 500+ v1.1116 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Prepair 500+ v1.1116 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Prepair 500+ v1.1116 TBC1D23 Zornitza Stark Phenotypes for gene: TBC1D23 were changed from Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive to Pontocerebellar hypoplasia, type 11 MIM#617695
Prepair 500+ v1.1115 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Prepair 500+ v1.1114 TAZ Zornitza Stark Marked gene: TAZ as ready
Prepair 500+ v1.1114 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Prepair 500+ v1.1114 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from Barth syndrome, 302060 (3) to Barth syndrome, MIM#302060
Prepair 500+ v1.1113 TAZ Zornitza Stark Publications for gene: TAZ were set to
Prepair 500+ v1.1112 TAT Zornitza Stark Marked gene: TAT as ready
Prepair 500+ v1.1112 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Prepair 500+ v1.1112 TAT Zornitza Stark Phenotypes for gene: TAT were changed from Tyrosinemia, type II (MIM#276600) to Tyrosinaemia, type II, MIM# 276600, MONDO:0010160
Prepair 500+ v1.1111 TAT Zornitza Stark Publications for gene: TAT were set to 16574453
Prepair 500+ v1.1110 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Prepair 500+ v1.1110 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1110 TANGO2 Zornitza Stark Phenotypes for gene: TANGO2 were changed from Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878
Prepair 500+ v1.1109 TANGO2 Zornitza Stark Tag SV/CNV tag was added to gene: TANGO2.
Prepair 500+ v1.1109 SYN1 Zornitza Stark Marked gene: SYN1 as ready
Prepair 500+ v1.1109 SYN1 Zornitza Stark Gene: syn1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1109 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) to Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491; Intellectual developmental disorder, X-linked 50, MIM#300115
Prepair 500+ v1.1108 SYN1 Zornitza Stark Publications for gene: SYN1 were set to
Prepair 500+ v1.1107 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Prepair 500+ v1.1107 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1107 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from Leigh syndrome, due to COX deficiency, 256000 (3) to Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110
Prepair 500+ v1.1106 SURF1 Zornitza Stark Publications for gene: SURF1 were set to
Prepair 500+ v1.1105 SUOX Zornitza Stark Marked gene: SUOX as ready
Prepair 500+ v1.1105 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Prepair 500+ v1.1105 SUOX Zornitza Stark Phenotypes for gene: SUOX were changed from Sulfite oxidase deficiency, 272300 (3) to Sulfite oxidase deficiency, MIM#272300
Prepair 500+ v1.1104 SUOX Zornitza Stark Publications for gene: SUOX were set to
Prepair 500+ v1.1103 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Prepair 500+ v1.1103 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1103 SUMF1 Zornitza Stark Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency, 272200 (3) to Multiple sulfatase deficiency, MIM#272200
Prepair 500+ v1.1102 SUMF1 Zornitza Stark Publications for gene: SUMF1 were set to
Prepair 500+ v1.1101 STXBP2 Zornitza Stark Marked gene: STXBP2 as ready
Prepair 500+ v1.1101 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1101 STXBP2 Zornitza Stark Phenotypes for gene: STXBP2 were changed from Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) to Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101
Prepair 500+ v1.1100 STXBP2 Zornitza Stark Publications for gene: STXBP2 were set to
Prepair 500+ v1.1099 STX11 Zornitza Stark Marked gene: STX11 as ready
Prepair 500+ v1.1099 STX11 Zornitza Stark Gene: stx11 has been classified as Green List (High Evidence).
Prepair 500+ v1.1099 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) to Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
Prepair 500+ v1.1098 STX11 Zornitza Stark Publications for gene: STX11 were set to
Prepair 500+ v1.1097 STAR Zornitza Stark Marked gene: STAR as ready
Prepair 500+ v1.1097 STAR Zornitza Stark Gene: star has been classified as Green List (High Evidence).
Prepair 500+ v1.1097 STAR Zornitza Stark Phenotypes for gene: STAR were changed from Lipoid adrenal hyperplasia, 201710 (3) to Lipoid adrenal hyperplasia MIM#201710
Prepair 500+ v1.1096 STAR Zornitza Stark Publications for gene: STAR were set to
Prepair 500+ v1.1095 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Prepair 500+ v1.1095 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Prepair 500+ v1.1095 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive to Salt and pepper developmental regression syndrome, MIM# 609056
Prepair 500+ v1.1094 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Prepair 500+ v1.1093 SPR Zornitza Stark Marked gene: SPR as ready
Prepair 500+ v1.1093 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Prepair 500+ v1.1093 SPR Zornitza Stark Phenotypes for gene: SPR were changed from Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716
Prepair 500+ v1.1092 SPR Zornitza Stark Publications for gene: SPR were set to
Prepair 500+ v1.1091 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Prepair 500+ v1.1091 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Prepair 500+ v1.1091 SPINK5 Zornitza Stark Phenotypes for gene: SPINK5 were changed from Netherton syndrome, 256500 (3) to Netherton syndrome, MIM#256500
Prepair 500+ v1.1090 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Prepair 500+ v1.1090 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Prepair 500+ v1.1090 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Prepair 500+ v1.1090 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Prepair 500+ v1.1090 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577
Prepair 500+ v1.1089 SPATA5 Zornitza Stark Publications for gene: SPATA5 were set to
Prepair 500+ v1.1088 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Prepair 500+ v1.1088 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Prepair 500+ v1.1088 SNAP29 Zornitza Stark Phenotypes for gene: SNAP29 were changed from Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Prepair 500+ v1.1087 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Prepair 500+ v1.1086 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Prepair 500+ v1.1086 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1086 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type A, 257200 (3) to Niemann-Pick disease, type A, MIM#257200; Niemann-Pick disease, type B, MIM#607616
Prepair 500+ v1.1085 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Prepair 500+ v1.1084 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Prepair 500+ v1.1084 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1084 SMN1 Zornitza Stark Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 (3) to Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669
Prepair 500+ v1.1083 SMN1 Zornitza Stark Publications for gene: SMN1 were set to
Prepair 500+ v1.1082 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Prepair 500+ v1.1082 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1082 SMARCAL1 Zornitza Stark Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia, 242900 (3) to Schimke immunoosseous dysplasia, MIM# 242900
Prepair 500+ v1.1081 SMARCAL1 Zornitza Stark Publications for gene: SMARCAL1 were set to
Prepair 500+ v1.1080 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Prepair 500+ v1.1080 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Prepair 500+ v1.1080 SLC7A7 Zornitza Stark Phenotypes for gene: SLC7A7 were changed from Lysinuric protein intolerance, 222700 (3) to Lysinuric protein intolerance, MIM#222700
Prepair 500+ v1.1079 SLC7A7 Zornitza Stark Publications for gene: SLC7A7 were set to
Prepair 500+ v1.1078 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Prepair 500+ v1.1078 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Prepair 500+ v1.1078 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from Cerebral creatine deficiency syndrome 1, 300352 (3) to Cerebral creatine deficiency syndrome 1, MIM#300352
Prepair 500+ v1.1077 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Prepair 500+ v1.1076 SLC6A5 Zornitza Stark Marked gene: SLC6A5 as ready
Prepair 500+ v1.1076 SLC6A5 Zornitza Stark Gene: slc6a5 has been classified as Green List (High Evidence).
Prepair 500+ v1.1076 SLC6A5 Zornitza Stark Phenotypes for gene: SLC6A5 were changed from Hyperekplexia 3, 614618 (3) to Hyperekplexia 3, MIM#614618
Prepair 500+ v1.1075 SLC6A5 Zornitza Stark Publications for gene: SLC6A5 were set to
Prepair 500+ v1.1074 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Prepair 500+ v1.1074 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Prepair 500+ v1.1074 SLC52A3 Zornitza Stark Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 (3) to Brown-Vialetto-Van Laere syndrome 1, MIM#211530
Prepair 500+ v1.1073 SLC52A3 Zornitza Stark Publications for gene: SLC52A3 were set to
Prepair 500+ v1.1072 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Prepair 500+ v1.1072 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1072 SLC52A2 Zornitza Stark Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 (3) to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Prepair 500+ v1.1071 SLC52A2 Zornitza Stark Publications for gene: SLC52A2 were set to
Prepair 500+ v1.1070 SLC46A1 Zornitza Stark Marked gene: SLC46A1 as ready
Prepair 500+ v1.1070 SLC46A1 Zornitza Stark Gene: slc46a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1070 SLC46A1 Zornitza Stark Phenotypes for gene: SLC46A1 were changed from Folate malabsorption, hereditary, 229050 (3) to Folate malabsorption, hereditary, MIM# 229050
Prepair 500+ v1.1069 SLC46A1 Zornitza Stark Publications for gene: SLC46A1 were set to
Prepair 500+ v1.1068 SLC45A2 Zornitza Stark Marked gene: SLC45A2 as ready
Prepair 500+ v1.1068 SLC45A2 Zornitza Stark Gene: slc45a2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1068 SLC45A2 Zornitza Stark Phenotypes for gene: SLC45A2 were changed from Albinism, oculocutaneous, type IV, 606574 (3) to Albinism, oculocutaneous, type IV MIM#606574
Prepair 500+ v1.1067 SLC45A2 Zornitza Stark Publications for gene: SLC45A2 were set to
Prepair 500+ v1.1066 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Prepair 500+ v1.1066 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Prepair 500+ v1.1066 SLC39A4 Zornitza Stark Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica, 201100 (3) to Acrodermatitis enteropathica, MIM# 201100
Prepair 500+ v1.1065 SLC39A4 Zornitza Stark Publications for gene: SLC39A4 were set to
Prepair 500+ v1.1064 SLC38A8 Zornitza Stark Marked gene: SLC38A8 as ready
Prepair 500+ v1.1064 SLC38A8 Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence).
Prepair 500+ v1.1064 SLC38A8 Zornitza Stark Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3) to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis (MIM#609218)
Prepair 500+ v1.1063 SLC38A8 Zornitza Stark Publications for gene: SLC38A8 were set to
Prepair 500+ v1.1062 SLC37A4 Zornitza Stark Marked gene: SLC37A4 as ready
Prepair 500+ v1.1062 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Green List (High Evidence).
Prepair 500+ v1.1062 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib, 232220 (3) to Glycogen storage disease Ib MIM#232220; Glycogen storage disease Ic MIM#232240; Glycogen Storage Disease I MONDO:0002413
Prepair 500+ v1.1061 SLC37A4 Zornitza Stark Publications for gene: SLC37A4 were set to
Prepair 500+ v1.1060 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Prepair 500+ v1.1060 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Green List (High Evidence).
Prepair 500+ v1.1060 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures (MIM615553) to Arthrogryposis, impaired intellectual development, and seizures MIM#615553
Prepair 500+ v1.1059 SLC26A3 Zornitza Stark Marked gene: SLC26A3 as ready
Prepair 500+ v1.1059 SLC26A3 Zornitza Stark Gene: slc26a3 has been classified as Green List (High Evidence).
Prepair 500+ v1.1059 SLC26A3 Zornitza Stark Publications for gene: SLC26A3 were set to
Prepair 500+ v1.1058 SLC26A2 Zornitza Stark Marked gene: SLC26A2 as ready
Prepair 500+ v1.1058 SLC26A2 Zornitza Stark Gene: slc26a2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1058 SLC26A2 Zornitza Stark Phenotypes for gene: SLC26A2 were changed from Achondrogenesis Ib, 600972 (3) to Achondrogenesis Ib MIM#600972; Atelosteogenesis, type II MIM#256050; De la Chapelle dysplasia MIM#256050; Diastrophic dysplasia MIM#222600; Diastrophic dysplasia, broad bone-platyspondylic variant MIM#222600; Epiphyseal dysplasia, multiple, 4 MIM#226900
Prepair 500+ v1.1057 SLC26A2 Zornitza Stark Publications for gene: SLC26A2 were set to
Prepair 500+ v1.1056 SLC25A15 Zornitza Stark Marked gene: SLC25A15 as ready
Prepair 500+ v1.1056 SLC25A15 Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
Prepair 500+ v1.1056 SLC25A15 Zornitza Stark Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970
Prepair 500+ v1.1055 SLC25A15 Zornitza Stark Publications for gene: SLC25A15 were set to
Prepair 500+ v1.1054 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Prepair 500+ v1.1054 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Prepair 500+ v1.1054 SLC25A13 Zornitza Stark Phenotypes for gene: SLC25A13 were changed from Citrullinemia, type II, neonatal-onset, 605814 (3) to Citrullinemia, type II, neonatal-onset, MIM#605814
Prepair 500+ v1.1053 SLC25A13 Zornitza Stark Publications for gene: SLC25A13 were set to
Prepair 500+ v1.1052 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Prepair 500+ v1.1052 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1052 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) to Combined D-2- and L-2-hydroxyglutaric aciduria, MIM#615182; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197
Prepair 500+ v1.1051 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Prepair 500+ v1.1050 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Prepair 500+ v1.1050 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Prepair 500+ v1.1050 SLC22A5 Zornitza Stark Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, 212140 (3) to Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919
Prepair 500+ v1.1049 SLC22A5 Zornitza Stark Publications for gene: SLC22A5 were set to
Prepair 500+ v1.1048 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Prepair 500+ v1.1048 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Prepair 500+ v1.1048 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3) to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Prepair 500+ v1.1047 SLC1A4 Zornitza Stark Publications for gene: SLC1A4 were set to
Prepair 500+ v1.1046 SLC19A3 Zornitza Stark Marked gene: SLC19A3 as ready
Prepair 500+ v1.1046 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Green List (High Evidence).
Prepair 500+ v1.1046 SLC19A3 Zornitza Stark Phenotypes for gene: SLC19A3 were changed from Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Prepair 500+ v1.1045 SLC19A3 Zornitza Stark Publications for gene: SLC19A3 were set to
Prepair 500+ v1.1044 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Prepair 500+ v1.1044 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1044 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) to Thiamine-responsive megaloblastic anemia syndrome, MIM#249270
Prepair 500+ v1.1043 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to
Prepair 500+ v1.1042 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Prepair 500+ v1.1042 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Prepair 500+ v1.1042 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile, 269920 (3) to Sialic acid storage disorder, infantile (MIM#269920)
Prepair 500+ v1.1041 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Prepair 500+ v1.1040 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Prepair 500+ v1.1040 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1040 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, MIM #300523
Prepair 500+ v1.1039 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to
Prepair 500+ v1.1038 SLC12A1 Zornitza Stark Marked gene: SLC12A1 as ready
Prepair 500+ v1.1038 SLC12A1 Zornitza Stark Gene: slc12a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1038 SLC12A1 Zornitza Stark Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1, 601678 (3) to Bartter syndrome, type 1, MIM#601678
Prepair 500+ v1.1037 SLC12A1 Zornitza Stark Publications for gene: SLC12A1 were set to
Prepair 500+ v1.1036 SKIV2L Zornitza Stark Marked gene: SKIV2L as ready
Prepair 500+ v1.1036 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Prepair 500+ v1.1036 SKIV2L Zornitza Stark Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2, 614602 (3) to Trichohepatoenteric syndrome 2, MIM# 614602
Prepair 500+ v1.1035 SKIV2L Zornitza Stark Publications for gene: SKIV2L were set to
Prepair 500+ v1.1034 SH3TC2 Zornitza Stark Marked gene: SH3TC2 as ready
Prepair 500+ v1.1034 SH3TC2 Zornitza Stark Gene: sh3tc2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1034 SH3TC2 Zornitza Stark Phenotypes for gene: SH3TC2 were changed from Charcot-Marie-Tooth disease, type 4C, 601596 (3) to Charcot-Marie-Tooth disease, type 4C MIM#601596
Prepair 500+ v1.1033 SGSH Zornitza Stark Marked gene: SGSH as ready
Prepair 500+ v1.1033 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Prepair 500+ v1.1033 SGSH Zornitza Stark Phenotypes for gene: SGSH were changed from Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3) to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655
Prepair 500+ v1.1032 SGSH Zornitza Stark Publications for gene: SGSH were set to
Prepair 500+ v1.1031 SGCG Zornitza Stark Marked gene: SGCG as ready
Prepair 500+ v1.1031 SGCG Zornitza Stark Gene: sgcg has been classified as Green List (High Evidence).
Prepair 500+ v1.1031 SGCG Zornitza Stark Phenotypes for gene: SGCG were changed from Muscular dystrophy, limb-girdle, type 2C, 253700 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700
Prepair 500+ v1.1030 SGCD Zornitza Stark Marked gene: SGCD as ready
Prepair 500+ v1.1030 SGCD Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
Prepair 500+ v1.1030 SGCD Zornitza Stark Phenotypes for gene: SGCD were changed from Muscular dystrophy, limb-girdle, type 2F, 601287 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
Prepair 500+ v1.1029 SGCD Zornitza Stark Publications for gene: SGCD were set to
Prepair 500+ v1.1028 SGCB Zornitza Stark Marked gene: SGCB as ready
Prepair 500+ v1.1028 SGCB Zornitza Stark Gene: sgcb has been classified as Green List (High Evidence).
Prepair 500+ v1.1028 SGCB Zornitza Stark Phenotypes for gene: SGCB were changed from Muscular dystrophy, limb-girdle, type 2E, 604286 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286
Prepair 500+ v1.1027 SGCA Zornitza Stark Marked gene: SGCA as ready
Prepair 500+ v1.1027 SGCA Zornitza Stark Gene: sgca has been classified as Green List (High Evidence).
Prepair 500+ v1.1027 SGCA Zornitza Stark Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, type 2D, 608099 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968
Prepair 500+ v1.1026 SGCA Zornitza Stark Publications for gene: SGCA were set to
Prepair 500+ v1.1025 SERPINH1 Zornitza Stark Marked gene: SERPINH1 as ready
Prepair 500+ v1.1025 SERPINH1 Zornitza Stark Gene: serpinh1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1025 SERPINH1 Zornitza Stark Phenotypes for gene: SERPINH1 were changed from Orofaciodigital syndrome VI, 277170 (3) to Osteogenesis imperfecta, type X, MIM# 613848; Osteogenesis imperfecta type 10, MONDO:0013459
Prepair 500+ v1.1024 SERPINH1 Zornitza Stark Publications for gene: SERPINH1 were set to
Prepair 500+ v1.1023 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Prepair 500+ v1.1023 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1023 SERAC1 Zornitza Stark Phenotypes for gene: SERAC1 were changed from 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3) to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Prepair 500+ v1.1022 SERAC1 Zornitza Stark Publications for gene: SERAC1 were set to
Prepair 500+ v1.1021 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Prepair 500+ v1.1021 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Prepair 500+ v1.1021 SEPSECS Zornitza Stark Phenotypes for gene: SEPSECS were changed from Pontocerebellar hypoplasia type 2D, 613811 (3) to Pontocerebellar hypoplasia type 2D, MIM# 613811
Prepair 500+ v1.1020 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to
Prepair 500+ v1.1019 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Prepair 500+ v1.1019 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Prepair 500+ v1.1019 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II, 224100 (3) to Dyserythropoietic anemia, congenital, type II MIM#224100
Prepair 500+ v1.1018 SEC23B Zornitza Stark Publications for gene: SEC23B were set to
Prepair 500+ v1.1017 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Prepair 500+ v1.1017 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Prepair 500+ v1.1017 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from Bardet-Biedl syndrome 16, 615993 (3) to Bardet-Biedl syndrome 16 (MIM# 615993); Senior-Loken syndrome 7 (MIM# 613615)
Prepair 500+ v1.1016 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Prepair 500+ v1.1015 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Prepair 500+ v1.1015 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1015 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) to Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377
Prepair 500+ v1.1014 SCO2 Zornitza Stark Publications for gene: SCO2 were set to
Prepair 500+ v1.1013 SC5D Zornitza Stark Marked gene: SC5D as ready
Prepair 500+ v1.1013 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Prepair 500+ v1.1013 SC5D Zornitza Stark Phenotypes for gene: SC5D were changed from Lathosterolosis, 607330 (3) to Lathosterolosis, MIM#607330
Prepair 500+ v1.1012 SC5D Zornitza Stark Publications for gene: SC5D were set to
Prepair 500+ v1.1011 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Prepair 500+ v1.1011 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1011 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from Aicardi-Goutieres syndrome 5, 612952 (3) to Aicardi-Goutieres syndrome 5, MIM# 612952
Prepair 500+ v1.1010 SACS Zornitza Stark Marked gene: SACS as ready
Prepair 500+ v1.1010 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Prepair 500+ v1.1010 SACS Zornitza Stark Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type, 270550 (3) to Spastic ataxia, Charlevoix-Saguenay type, MIM#270550
Prepair 500+ v1.1009 SACS Zornitza Stark Publications for gene: SACS were set to
Prepair 500+ v1.1008 SACS Zornitza Stark Tag SV/CNV tag was added to gene: SACS.
Prepair 500+ v1.1008 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Prepair 500+ v1.1008 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1008 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from Central core disease, MIM# 117000; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000 to Central core disease (MIM#117000); Minicore myopathy with external ophthalmoplegia (MIM#255320); Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000)
Prepair 500+ v1.1007 RTEL1 Zornitza Stark Marked gene: RTEL1 as ready
Prepair 500+ v1.1007 RTEL1 Zornitza Stark Gene: rtel1 has been classified as Green List (High Evidence).
Prepair 500+ v1.1007 RTEL1 Zornitza Stark Phenotypes for gene: RTEL1 were changed from Dyskeratosis congenita, autosomal recessive 5, 615190 (3) to Dyskeratosis congenita, autosomal recessive 5, MIM#615190
Prepair 500+ v1.1006 RTEL1 Zornitza Stark Publications for gene: RTEL1 were set to
Prepair 500+ v1.1005 RPS6KA3 Zornitza Stark Marked gene: RPS6KA3 as ready
Prepair 500+ v1.1005 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Green List (High Evidence).
Prepair 500+ v1.1005 RPS6KA3 Zornitza Stark Mode of inheritance for gene: RPS6KA3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 500+ v1.1004 RPS6KA3 Zornitza Stark Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome, MIM#303600; Intellectual developmental disorder, X-linked 19; MIM#300844
Prepair 500+ v1.1003 RPS6KA3 Zornitza Stark Publications for gene: RPS6KA3 were set to
Prepair 500+ v1.1002 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Prepair 500+ v1.1002 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Prepair 500+ v1.1002 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from Meckel syndrome 5, 611561 (3) to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Ciliopathy, RPGRIP1L-related, MONDO:0005308
Prepair 500+ v1.1001 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Prepair 500+ v1.1000 RPE65 Zornitza Stark Marked gene: RPE65 as ready
Prepair 500+ v1.1000 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Prepair 500+ v1.1000 RPE65 Zornitza Stark Phenotypes for gene: RPE65 were changed from Leber congenital amaurosis 2, 204100 (3) to Retinitis pigmentosa 20, MIM#613794; Leber congenital amaurosis 2, MIM#204100
Prepair 500+ v1.999 RP2 Zornitza Stark Marked gene: RP2 as ready
Prepair 500+ v1.999 RP2 Zornitza Stark Gene: rp2 has been classified as Green List (High Evidence).
Prepair 500+ v1.999 RP2 Zornitza Stark Phenotypes for gene: RP2 were changed from Retinitis pigmentosa 2, 312600 (3) to Retinitis pigmentosa 2, MIM #312600
Prepair 500+ v1.998 RP2 Zornitza Stark Publications for gene: RP2 were set to
Prepair 500+ v1.997 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Prepair 500+ v1.997 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Prepair 500+ v1.997 RNASEH2C Zornitza Stark Phenotypes for gene: RNASEH2C were changed from Aicardi-Goutieres syndrome 3, 610329 (3) to Aicardi-Goutieres syndrome 3, MIM# 610329
Prepair 500+ v1.996 RNASEH2C Zornitza Stark Publications for gene: RNASEH2C were set to
Prepair 500+ v1.995 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Prepair 500+ v1.995 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Prepair 500+ v1.995 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181 (3) to Aicardi-Goutieres syndrome 2 MIM#610181
Prepair 500+ v1.994 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Prepair 500+ v1.993 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Prepair 500+ v1.993 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Prepair 500+ v1.993 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from Aicardi-Goutieres syndrome 4, 610333 (3) to Aicardi-Goutieres syndrome 4 MIM#610333; RNASEH2A-related type 1 interferonopathy MONDO:0700259
Prepair 500+ v1.992 RNASEH2A Zornitza Stark Publications for gene: RNASEH2A were set to
Prepair 500+ v1.991 RMRP Zornitza Stark Marked gene: RMRP as ready
Prepair 500+ v1.991 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
Prepair 500+ v1.991 RMRP Zornitza Stark Phenotypes for gene: RMRP were changed from Cartilage-hair hypoplasia, 250250 (3) to Cartilage-hair hypoplasia MIM#250250; Anauxetic dysplasia 1, MIM#607095; Metaphyseal dysplasia without hypotrichosis MIM#250460
Prepair 500+ v1.990 RMRP Zornitza Stark Publications for gene: RMRP were set to
Prepair 500+ v1.989 RMND1 Zornitza Stark Marked gene: RMND1 as ready
Prepair 500+ v1.989 RMND1 Zornitza Stark Gene: rmnd1 has been classified as Green List (High Evidence).
Prepair 500+ v1.989 RMND1 Zornitza Stark Phenotypes for gene: RMND1 were changed from Combined oxidative phosphorylation deficiency 11, 614922 (3) to Combined oxidative phosphorylation deficiency 11, MIM#614922
Prepair 500+ v1.988 RMND1 Zornitza Stark Publications for gene: RMND1 were set to
Prepair 500+ v1.987 RDH12 Zornitza Stark Marked gene: RDH12 as ready
Prepair 500+ v1.987 RDH12 Zornitza Stark Gene: rdh12 has been classified as Green List (High Evidence).
Prepair 500+ v1.987 RDH12 Zornitza Stark Phenotypes for gene: RDH12 were changed from Leber congenital amaurosis 13, 612712 (3) to Leber congenital amaurosis 13, MIM#612712
Prepair 500+ v1.986 RDH12 Zornitza Stark Publications for gene: RDH12 were set to
Prepair 500+ v1.985 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Prepair 500+ v1.985 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Green List (High Evidence).
Prepair 500+ v1.985 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from Seckel syndrome 2, 606744 (3) to Jawad syndrome MIM#251255; Seckel syndrome 2 MIM#606744
Prepair 500+ v1.984 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Prepair 500+ v1.983 RAX Zornitza Stark Marked gene: RAX as ready
Prepair 500+ v1.983 RAX Zornitza Stark Gene: rax has been classified as Green List (High Evidence).
Prepair 500+ v1.983 RAX Zornitza Stark Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, 611038 (3) to Microphthalmia, syndromic 16, MIM #611038
Prepair 500+ v1.982 RAX Zornitza Stark Publications for gene: RAX were set to
Prepair 500+ v1.981 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Prepair 500+ v1.981 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Prepair 500+ v1.981 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from Pontocerebellar hypoplasia, type 6, 611523 (3) to Pontocerebellar hypoplasia, type 6, MIM#611523
Prepair 500+ v1.980 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Prepair 500+ v1.979 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Prepair 500+ v1.979 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Prepair 500+ v1.979 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence, 208150 (3) to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326; Fetal akinesia deformation sequence 2 MIM#618388
Prepair 500+ v1.978 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Prepair 500+ v1.977 RAG2 Zornitza Stark Marked gene: RAG2 as ready
Prepair 500+ v1.977 RAG2 Zornitza Stark Gene: rag2 has been classified as Green List (High Evidence).
Prepair 500+ v1.977 RAG2 Zornitza Stark Phenotypes for gene: RAG2 were changed from Severe combined immunodeficiency, B cell-negative, 601457 (3) to Combined cellular and humoral immune defects with granulomas (MIM#233650); Omenn syndrome (MIM#603554); Severe combined immunodeficiency, B cell-negative (MIM#601457)
Prepair 500+ v1.976 RAG1 Zornitza Stark Marked gene: RAG1 as ready
Prepair 500+ v1.976 RAG1 Zornitza Stark Gene: rag1 has been classified as Green List (High Evidence).
Prepair 500+ v1.976 RAG1 Zornitza Stark Phenotypes for gene: RAG1 were changed from Severe combined immunodeficiency, B cell-negative, 601457 (3) to Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457
Prepair 500+ v1.975 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Prepair 500+ v1.975 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Prepair 500+ v1.975 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, 614225 (3) to Warburg micro syndrome MONDO:0016649
Prepair 500+ v1.974 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Prepair 500+ v1.973 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Prepair 500+ v1.973 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Prepair 500+ v1.973 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, 600118 (3) to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM# 619420
Prepair 500+ v1.972 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Prepair 500+ v1.971 RAB23 Zornitza Stark Marked gene: RAB23 as ready
Prepair 500+ v1.971 RAB23 Zornitza Stark Gene: rab23 has been classified as Green List (High Evidence).
Prepair 500+ v1.971 RAB23 Zornitza Stark Phenotypes for gene: RAB23 were changed from Carpenter syndrome, 201000 (3) to Carpenter syndrome MIM#201000
Prepair 500+ v1.970 RAB23 Zornitza Stark Publications for gene: RAB23 were set to
Prepair 500+ v1.969 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Prepair 500+ v1.969 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Prepair 500+ v1.969 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from Warburg micro syndrome 3, 614222 (3) to Warburg micro syndrome 3 MIM#614222
Prepair 500+ v1.968 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Prepair 500+ v1.967 TMEM231 Seb Lunke Marked gene: TMEM231 as ready
Prepair 500+ v1.967 TMEM231 Seb Lunke Gene: tmem231 has been classified as Green List (High Evidence).
Prepair 500+ v1.967 TMEM231 Seb Lunke Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20, 614970 (3) to Joubert syndrome 20, MIM#614970; Meckel syndrome 11, MIM#615397
Prepair 500+ v1.966 TMEM231 Seb Lunke Publications for gene: TMEM231 were set to
Prepair 500+ v1.965 TMEM237 Seb Lunke Marked gene: TMEM237 as ready
Prepair 500+ v1.965 TMEM237 Seb Lunke Gene: tmem237 has been classified as Green List (High Evidence).
Prepair 500+ v1.965 TMEM237 Seb Lunke Phenotypes for gene: TMEM237 were changed from Joubert syndrome 14, 614424 (3) to Joubert syndrome 14, MIM#614424
Prepair 500+ v1.964 TMEM237 Seb Lunke Publications for gene: TMEM237 were set to
Prepair 500+ v1.963 TMEM67 Seb Lunke Marked gene: TMEM67 as ready
Prepair 500+ v1.963 TMEM67 Seb Lunke Gene: tmem67 has been classified as Green List (High Evidence).
Prepair 500+ v1.963 TMEM67 Seb Lunke Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6, 610688 (3) to COACH syndrome 1 MIM#216360; Joubert syndrome 6 MIM#610688; Meckel syndrome 3 MIM#607361; Nephronophthisis 11 MIM#613550
Prepair 500+ v1.962 TMEM67 Seb Lunke Publications for gene: TMEM67 were set to
Prepair 500+ v1.961 TMTC3 Seb Lunke Marked gene: TMTC3 as ready
Prepair 500+ v1.961 TMTC3 Seb Lunke Gene: tmtc3 has been classified as Green List (High Evidence).
Prepair 500+ v1.961 TMTC3 Seb Lunke Phenotypes for gene: TMTC3 were changed from Lissencephaly 8, 617255 (3), Autosomal recessive to Lissencephaly 8 MIM#617255, MONDO:0014992
Prepair 500+ v1.960 TMTC3 Seb Lunke Publications for gene: TMTC3 were set to
Prepair 500+ v1.959 TOE1 Seb Lunke Marked gene: TOE1 as ready
Prepair 500+ v1.959 TOE1 Seb Lunke Gene: toe1 has been classified as Green List (High Evidence).
Prepair 500+ v1.959 TOE1 Seb Lunke Phenotypes for gene: TOE1 were changed from Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive to Pontocerebellar hypoplasia, type 7 MIM#614969
Prepair 500+ v1.958 TOE1 Seb Lunke Publications for gene: TOE1 were set to
Prepair 500+ v1.957 TPP1 Seb Lunke Marked gene: TPP1 as ready
Prepair 500+ v1.957 TPP1 Seb Lunke Gene: tpp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.957 TPP1 Seb Lunke Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis, neuronal, 2, 204500 (3) to Ceroid lipofuscinosis, neuronal, 2 MIM#204500; Spinocerebellar ataxia, autosomal recessive 7 MIM#609270
Prepair 500+ v1.956 TPP1 Seb Lunke Publications for gene: TPP1 were set to
Prepair 500+ v1.955 TRDN Seb Lunke Marked gene: TRDN as ready
Prepair 500+ v1.955 TRDN Seb Lunke Gene: trdn has been classified as Green List (High Evidence).
Prepair 500+ v1.955 TRDN Seb Lunke Phenotypes for gene: TRDN were changed from Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3) to Cardiac arrhythmia syndrome, with or without skeletal muscle weakness MIM#615441; Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990
Prepair 500+ v1.954 TRDN Seb Lunke Publications for gene: TRDN were set to
Prepair 500+ v1.953 TREX1 Seb Lunke Marked gene: TREX1 as ready
Prepair 500+ v1.953 TREX1 Seb Lunke Gene: trex1 has been classified as Green List (High Evidence).
Prepair 500+ v1.953 TREX1 Seb Lunke Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3) to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165
Prepair 500+ v1.952 TREX1 Seb Lunke Publications for gene: TREX1 were set to
Prepair 500+ v1.951 TRIM32 Seb Lunke Marked gene: TRIM32 as ready
Prepair 500+ v1.951 TRIM32 Seb Lunke Gene: trim32 has been classified as Green List (High Evidence).
Prepair 500+ v1.951 TRIM32 Seb Lunke Publications for gene: TRIM32 were set to 9634523; 10399877; 17994549; 25351777; 19492423, 19303295, 31309175
Prepair 500+ v1.950 TRIM32 Seb Lunke Phenotypes for gene: TRIM32 were changed from Muscular dystrophy, limb-girdle, type 2H, 254110 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
Prepair 500+ v1.949 TRIM32 Seb Lunke Publications for gene: TRIM32 were set to
Prepair 500+ v1.948 TRIM37 Seb Lunke Marked gene: TRIM37 as ready
Prepair 500+ v1.948 TRIM37 Seb Lunke Gene: trim37 has been classified as Green List (High Evidence).
Prepair 500+ v1.948 TRIM37 Seb Lunke Phenotypes for gene: TRIM37 were changed from Mulibrey nanism, 253250 (3) to Mulibrey nanism MIM#253250
Prepair 500+ v1.947 TRIM37 Seb Lunke Publications for gene: TRIM37 were set to
Prepair 500+ v1.946 TRMU Seb Lunke Marked gene: TRMU as ready
Prepair 500+ v1.946 TRMU Seb Lunke Gene: trmu has been classified as Green List (High Evidence).
Prepair 500+ v1.946 TRMU Seb Lunke Phenotypes for gene: TRMU were changed from Liver failure, transient infantile, 613070 (3) to Liver failure, transient infantile MIM# 613070; acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111
Prepair 500+ v1.945 TRMU Seb Lunke Publications for gene: TRMU were set to
Prepair 500+ v1.944 TRPM6 Seb Lunke Marked gene: TRPM6 as ready
Prepair 500+ v1.944 TRPM6 Seb Lunke Gene: trpm6 has been classified as Green List (High Evidence).
Prepair 500+ v1.944 TRPM6 Seb Lunke Phenotypes for gene: TRPM6 were changed from Hypomagnesemia 1, intestinal, 602014 (3) to Hypomagnesemia 1, intestinal MIM#602014
Prepair 500+ v1.943 TRPM6 Seb Lunke Publications for gene: TRPM6 were set to
Prepair 500+ v1.942 TSEN2 Seb Lunke Marked gene: TSEN2 as ready
Prepair 500+ v1.942 TSEN2 Seb Lunke Gene: tsen2 has been classified as Green List (High Evidence).
Prepair 500+ v1.942 TSEN2 Seb Lunke Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia type 2B, 612389 (3) to Pontocerebellar hypoplasia type 2B, MIM #612389
Prepair 500+ v1.941 TSEN2 Seb Lunke Publications for gene: TSEN2 were set to
Prepair 500+ v1.940 TSEN54 Seb Lunke Marked gene: TSEN54 as ready
Prepair 500+ v1.940 TSEN54 Seb Lunke Gene: tsen54 has been classified as Green List (High Evidence).
Prepair 500+ v1.940 TSEN54 Seb Lunke Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 2A, 277470 (3) to Pontocerebellar hypoplasia type 2A (MIM#277470); Pontocerebellar hypoplasia type 4 (MIM#225753); ?Pontocerebellar hypoplasia type 5 (MIM#610204)
Prepair 500+ v1.939 TSEN54 Seb Lunke Publications for gene: TSEN54 were set to
Prepair 500+ v1.938 TSFM Seb Lunke Marked gene: TSFM as ready
Prepair 500+ v1.938 TSFM Seb Lunke Gene: tsfm has been classified as Green List (High Evidence).
Prepair 500+ v1.938 TSFM Seb Lunke Phenotypes for gene: TSFM were changed from Combined oxidative phosphorylation deficiency 3, 610505 (3) to Combined oxidative phosphorylation deficiency 3, MIM#610505
Prepair 500+ v1.937 TSFM Seb Lunke Publications for gene: TSFM were set to
Prepair 500+ v1.936 TSHB Seb Lunke Marked gene: TSHB as ready
Prepair 500+ v1.936 TSHB Seb Lunke Gene: tshb has been classified as Green List (High Evidence).
Prepair 500+ v1.936 TSHB Seb Lunke Phenotypes for gene: TSHB were changed from Hypothryoidism, congenital, nongoitrous 4, 275100 (3) to Hypothyroidism, congenital, nongoitrous 4 MIM#275100
Prepair 500+ v1.935 TSHB Seb Lunke Publications for gene: TSHB were set to
Prepair 500+ v1.934 TTC37 Seb Lunke Marked gene: TTC37 as ready
Prepair 500+ v1.934 TTC37 Seb Lunke Gene: ttc37 has been classified as Green List (High Evidence).
Prepair 500+ v1.934 TTC37 Seb Lunke Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome 1, 222470 (3) to Trichohepatoenteric syndrome 1 MIM#222470
Prepair 500+ v1.933 TTC37 Seb Lunke Publications for gene: TTC37 were set to
Prepair 500+ v1.932 TTC7A Seb Lunke Marked gene: TTC7A as ready
Prepair 500+ v1.932 TTC7A Seb Lunke Gene: ttc7a has been classified as Green List (High Evidence).
Prepair 500+ v1.932 TTC7A Seb Lunke Publications for gene: TTC7A were set to
Prepair 500+ v1.931 TTC8 Seb Lunke Marked gene: TTC8 as ready
Prepair 500+ v1.931 TTC8 Seb Lunke Gene: ttc8 has been classified as Green List (High Evidence).
Prepair 500+ v1.931 TTC8 Seb Lunke Phenotypes for gene: TTC8 were changed from Bardet-Biedl syndrome 8, 615985 (3) to Bardet-Biedl syndrome 8, MIM #615985
Prepair 500+ v1.930 TTC8 Seb Lunke Publications for gene: TTC8 were set to
Prepair 500+ v1.929 TTPA Seb Lunke Marked gene: TTPA as ready
Prepair 500+ v1.929 TTPA Seb Lunke Gene: ttpa has been classified as Green List (High Evidence).
Prepair 500+ v1.929 TTPA Seb Lunke Phenotypes for gene: TTPA were changed from Ataxia with isolated vitamin E deficiency, 277460 (3) to Ataxia with isolated vitamin E deficiency MIM#277460
Prepair 500+ v1.928 TTPA Seb Lunke Publications for gene: TTPA were set to
Prepair 500+ v1.927 TULP1 Seb Lunke Marked gene: TULP1 as ready
Prepair 500+ v1.927 TULP1 Seb Lunke Gene: tulp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.927 TULP1 Seb Lunke Phenotypes for gene: TULP1 were changed from Retinitis pigmentosa 14, 600132 (3) to Leber congenital amaurosis 15, MIM#613843; Retinitis pigmentosa 14, MIM#600132
Prepair 500+ v1.926 TULP1 Seb Lunke Publications for gene: TULP1 were set to
Prepair 500+ v1.925 TWNK Seb Lunke Marked gene: TWNK as ready
Prepair 500+ v1.925 TWNK Seb Lunke Gene: twnk has been classified as Green List (High Evidence).
Prepair 500+ v1.925 TWNK Seb Lunke Phenotypes for gene: TWNK were changed from Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245; Perrault syndrome 5, MIM#616138
Prepair 500+ v1.924 TWNK Seb Lunke Publications for gene: TWNK were set to
Prepair 500+ v1.923 TYMP Seb Lunke Marked gene: TYMP as ready
Prepair 500+ v1.923 TYMP Seb Lunke Gene: tymp has been classified as Green List (High Evidence).
Prepair 500+ v1.923 TYMP Seb Lunke Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM#603041
Prepair 500+ v1.922 TYMP Seb Lunke Publications for gene: TYMP were set to
Prepair 500+ v1.921 TYR Seb Lunke Marked gene: TYR as ready
Prepair 500+ v1.921 TYR Seb Lunke Gene: tyr has been classified as Green List (High Evidence).
Prepair 500+ v1.921 TYR Seb Lunke Phenotypes for gene: TYR were changed from Albinism, oculocutaneous, type IA, 203100 (3) to Oculocutaneous albinism type 1 (MONDO:0018135); Albinism, oculocutaneous, type IA, MIM#203100; Albinism, oculocutaneous, type IB, MIM#606952
Prepair 500+ v1.920 TYR Seb Lunke Publications for gene: TYR were set to
Prepair 500+ v1.919 TYRP1 Seb Lunke Marked gene: TYRP1 as ready
Prepair 500+ v1.919 TYRP1 Seb Lunke Gene: tyrp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.919 TYRP1 Seb Lunke Phenotypes for gene: TYRP1 were changed from Albinism, oculocutaneous, type III, 203290 (3) to Albinism, oculocutaneous, type III MIM#203290
Prepair 500+ v1.918 TYRP1 Seb Lunke Publications for gene: TYRP1 were set to
Prepair 500+ v1.917 UBA5 Seb Lunke Marked gene: UBA5 as ready
Prepair 500+ v1.917 UBA5 Seb Lunke Gene: uba5 has been classified as Green List (High Evidence).
Prepair 500+ v1.917 UBA5 Seb Lunke Phenotypes for gene: UBA5 were changed from Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive to Developmental and epileptic encephalopathy 44, MIM#617132
Prepair 500+ v1.916 UBA5 Seb Lunke Publications for gene: UBA5 were set to
Prepair 500+ v1.915 UBE2T Seb Lunke Marked gene: UBE2T as ready
Prepair 500+ v1.915 UBE2T Seb Lunke Gene: ube2t has been classified as Green List (High Evidence).
Prepair 500+ v1.915 UBE2T Seb Lunke Phenotypes for gene: UBE2T were changed from Fanconi anemia, complementation group T, 616435 (3) to Fanconi anemia, complementation group T MIM#616435
Prepair 500+ v1.914 UBE2T Seb Lunke Publications for gene: UBE2T were set to 32646888; 26119737; 26046368; 26085575
Prepair 500+ v1.913 UBE2T Seb Lunke Publications for gene: UBE2T were set to
Prepair 500+ v1.912 UBR1 Seb Lunke Marked gene: UBR1 as ready
Prepair 500+ v1.912 UBR1 Seb Lunke Gene: ubr1 has been classified as Green List (High Evidence).
Prepair 500+ v1.912 UBR1 Seb Lunke Phenotypes for gene: UBR1 were changed from Johanson-Blizzard syndrome, 243800 (3) to Johanson-Blizzard syndrome MIM#243800
Prepair 500+ v1.911 UBR1 Seb Lunke Publications for gene: UBR1 were set to 24599544; 18553553; 16311597
Prepair 500+ v1.910 UBR1 Seb Lunke Publications for gene: UBR1 were set to
Prepair 500+ v1.909 UGT1A1 Seb Lunke Marked gene: UGT1A1 as ready
Prepair 500+ v1.909 UGT1A1 Seb Lunke Gene: ugt1a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.909 UGT1A1 Seb Lunke Phenotypes for gene: UGT1A1 were changed from Crigler-Najjar syndrome, type I, 218800 (3) to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785
Prepair 500+ v1.908 UGT1A1 Seb Lunke Publications for gene: UGT1A1 were set to
Prepair 500+ v1.907 UNC13D Seb Lunke Marked gene: UNC13D as ready
Prepair 500+ v1.907 UNC13D Seb Lunke Gene: unc13d has been classified as Green List (High Evidence).
Prepair 500+ v1.907 UNC13D Seb Lunke Phenotypes for gene: UNC13D were changed from Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) to Hemophagocytic lymphohistiocytosis, familial, 3, MIM#608898
Prepair 500+ v1.906 UNC13D Seb Lunke Publications for gene: UNC13D were set to
Prepair 500+ v1.905 UPF3B Seb Lunke Marked gene: UPF3B as ready
Prepair 500+ v1.905 UPF3B Seb Lunke Gene: upf3b has been classified as Green List (High Evidence).
Prepair 500+ v1.905 UPF3B Seb Lunke Phenotypes for gene: UPF3B were changed from Mental retardation, X-linked, syndromic 14, 300676 (3) to Intellectual developmental disorder, X-linked syndromic 14 MIM#300676
Prepair 500+ v1.904 UPF3B Seb Lunke Publications for gene: UPF3B were set to
Prepair 500+ v1.903 USH1C Seb Lunke Marked gene: USH1C as ready
Prepair 500+ v1.903 USH1C Seb Lunke Gene: ush1c has been classified as Green List (High Evidence).
Prepair 500+ v1.903 USH1C Seb Lunke Phenotypes for gene: USH1C were changed from Usher syndrome, type 1C, 276904 (3) to Usher syndrome, type 1C MIM# 276904, MONDO:0010171
Prepair 500+ v1.902 USH1C Seb Lunke Publications for gene: USH1C were set to
Prepair 500+ v1.901 USH1G Seb Lunke Marked gene: USH1G as ready
Prepair 500+ v1.901 USH1G Seb Lunke Gene: ush1g has been classified as Green List (High Evidence).
Prepair 500+ v1.901 USH1G Seb Lunke Phenotypes for gene: USH1G were changed from Usher syndrome, type 1G, 606943 (3) to Usher syndrome, type 1G MIM#606943
Prepair 500+ v1.900 USH1G Seb Lunke Publications for gene: USH1G were set to
Prepair 500+ v1.899 USH2A Seb Lunke Marked gene: USH2A as ready
Prepair 500+ v1.899 USH2A Seb Lunke Gene: ush2a has been classified as Green List (High Evidence).
Prepair 500+ v1.899 USH2A Seb Lunke Phenotypes for gene: USH2A were changed from Usher syndrome, type 2A, 276901 (3) to Usher syndrome, type 2A, MIM#276901
Prepair 500+ v1.898 USH2A Seb Lunke Publications for gene: USH2A were set to
Prepair 500+ v1.897 USP9X Seb Lunke Marked gene: USP9X as ready
Prepair 500+ v1.897 USP9X Seb Lunke Gene: usp9x has been classified as Green List (High Evidence).
Prepair 500+ v1.897 USP9X Seb Lunke Phenotypes for gene: USP9X were changed from Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 to Intellectual developmental disorder, X-linked 99, MIM#300919
Prepair 500+ v1.896 USP9X Seb Lunke Publications for gene: USP9X were set to
Prepair 500+ v1.895 USP9X Seb Lunke Mode of inheritance for gene: USP9X was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 500+ v1.894 VLDLR Seb Lunke Marked gene: VLDLR as ready
Prepair 500+ v1.894 VLDLR Seb Lunke Gene: vldlr has been classified as Green List (High Evidence).
Prepair 500+ v1.894 VLDLR Seb Lunke Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) to Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1, MIM#224050
Prepair 500+ v1.893 VLDLR Seb Lunke Publications for gene: VLDLR were set to
Prepair 500+ v1.892 VPS11 Seb Lunke Phenotypes for gene: VPS11 were changed from Leukodystrophy, hypomyelinating, 12 (MIM#616683) to Leukodystrophy, hypomyelinating, 12 MIM#616683
Prepair 500+ v1.891 VPS11 Seb Lunke Marked gene: VPS11 as ready
Prepair 500+ v1.891 VPS11 Seb Lunke Gene: vps11 has been classified as Green List (High Evidence).
Prepair 500+ v1.891 VPS11 Seb Lunke Phenotypes for gene: VPS11 were changed from Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive to Leukodystrophy, hypomyelinating, 12 (MIM#616683)
Prepair 500+ v1.890 VPS11 Seb Lunke Publications for gene: VPS11 were set to 27473128; 26307567; 27120463
Prepair 500+ v1.889 VPS53 Seb Lunke Marked gene: VPS53 as ready
Prepair 500+ v1.889 VPS53 Seb Lunke Gene: vps53 has been classified as Green List (High Evidence).
Prepair 500+ v1.889 VPS13B Seb Lunke Marked gene: VPS13B as ready
Prepair 500+ v1.889 VPS13B Seb Lunke Gene: vps13b has been classified as Green List (High Evidence).
Prepair 500+ v1.889 VPS13B Seb Lunke Phenotypes for gene: VPS13B were changed from Cohen syndrome, 216550 (3) to Cohen syndrome, MIM# 216550
Prepair 500+ v1.888 VPS13B Seb Lunke Publications for gene: VPS13B were set to
Prepair 500+ v1.887 VPS45 Seb Lunke Marked gene: VPS45 as ready
Prepair 500+ v1.887 VPS45 Seb Lunke Gene: vps45 has been classified as Green List (High Evidence).
Prepair 500+ v1.887 VPS45 Seb Lunke Phenotypes for gene: VPS45 were changed from Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3) to Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285
Prepair 500+ v1.886 VPS45 Seb Lunke Publications for gene: VPS45 were set to
Prepair 500+ v1.885 VPS53 Seb Lunke Phenotypes for gene: VPS53 were changed from Pontocerebellar hypoplasia, type 2E, 615851 (3) to Pontocerebellar hypoplasia, type 2E, MIM#615851
Prepair 500+ v1.884 VPS53 Seb Lunke Publications for gene: VPS53 were set to
Prepair 500+ v1.883 VRK1 Seb Lunke Marked gene: VRK1 as ready
Prepair 500+ v1.883 VRK1 Seb Lunke Gene: vrk1 has been classified as Green List (High Evidence).
Prepair 500+ v1.883 VRK1 Seb Lunke Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, 607596 (3) to Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866; Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Prepair 500+ v1.882 VRK1 Seb Lunke Publications for gene: VRK1 were set to
Prepair 500+ v1.881 VSX2 Seb Lunke Marked gene: VSX2 as ready
Prepair 500+ v1.881 VSX2 Seb Lunke Gene: vsx2 has been classified as Green List (High Evidence).
Prepair 500+ v1.881 VSX2 Seb Lunke Phenotypes for gene: VSX2 were changed from Microphthalmia with coloboma 3, 610092 (3) to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093
Prepair 500+ v1.880 VSX2 Seb Lunke Publications for gene: VSX2 were set to
Prepair 500+ v1.879 WAS Seb Lunke Marked gene: WAS as ready
Prepair 500+ v1.879 WAS Seb Lunke Gene: was has been classified as Green List (High Evidence).
Prepair 500+ v1.879 WAS Seb Lunke Phenotypes for gene: WAS were changed from Wiskott-Aldrich syndrome, 301000 (3) to Neutropenia, severe congenital, X-linked, MIM#300299; Thrombocytopenia, X-linked, MIM#313900; Wiskott-Aldrich syndrome, MIM#301000
Prepair 500+ v1.878 WAS Seb Lunke Publications for gene: WAS were set to
Prepair 500+ v1.877 WDR34 Seb Lunke Marked gene: WDR34 as ready
Prepair 500+ v1.877 WDR34 Seb Lunke Gene: wdr34 has been classified as Green List (High Evidence).
Prepair 500+ v1.877 WDR34 Seb Lunke Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3) to Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287
Prepair 500+ v1.876 WDR34 Seb Lunke Publications for gene: WDR34 were set to
Prepair 500+ v1.875 WDR62 Seb Lunke Marked gene: WDR62 as ready
Prepair 500+ v1.875 WDR62 Seb Lunke Gene: wdr62 has been classified as Green List (High Evidence).
Prepair 500+ v1.875 WDR62 Seb Lunke Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317
Prepair 500+ v1.874 WDR62 Seb Lunke Publications for gene: WDR62 were set to
Prepair 500+ v1.873 WDR81 Seb Lunke Marked gene: WDR81 as ready
Prepair 500+ v1.873 WDR81 Seb Lunke Gene: wdr81 has been classified as Green List (High Evidence).
Prepair 500+ v1.873 WDR81 Seb Lunke Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430; Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794
Prepair 500+ v1.872 WDR81 Seb Lunke Publications for gene: WDR81 were set to
Prepair 500+ v1.871 WHRN Seb Lunke Marked gene: WHRN as ready
Prepair 500+ v1.871 WHRN Seb Lunke Gene: whrn has been classified as Green List (High Evidence).
Prepair 500+ v1.871 WHRN Seb Lunke Phenotypes for gene: WHRN were changed from Usher syndrome, type 2D, 611383 (3) to Usher syndrome, type 2D MIM#611383
Prepair 500+ v1.870 WHRN Seb Lunke Publications for gene: WHRN were set to
Prepair 500+ v1.869 WISP3 Seb Lunke Marked gene: WISP3 as ready
Prepair 500+ v1.869 WISP3 Seb Lunke Gene: wisp3 has been classified as Green List (High Evidence).
Prepair 500+ v1.869 WISP3 Seb Lunke Phenotypes for gene: WISP3 were changed from Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) to Progressive pseudorheumatoid dysplasia MIM#208230
Prepair 500+ v1.868 WISP3 Seb Lunke Publications for gene: WISP3 were set to
Prepair 500+ v1.867 WRN Seb Lunke Marked gene: WRN as ready
Prepair 500+ v1.867 WRN Seb Lunke Gene: wrn has been classified as Green List (High Evidence).
Prepair 500+ v1.867 WRN Seb Lunke Phenotypes for gene: WRN were changed from Werner syndrome, 277700 (3) to Werner syndrome, MIM#277700
Prepair 500+ v1.866 WRN Seb Lunke Publications for gene: WRN were set to
Prepair 500+ v1.865 WWOX Seb Lunke Marked gene: WWOX as ready
Prepair 500+ v1.865 WWOX Seb Lunke Gene: wwox has been classified as Green List (High Evidence).
Prepair 500+ v1.865 WWOX Seb Lunke Phenotypes for gene: WWOX were changed from Epileptic encephalopathy, early infantile, 28, 616211 (3) to Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322; Developmental and epileptic encephalopathy 28, MIM# 616211
Prepair 500+ v1.864 WWOX Seb Lunke Publications for gene: WWOX were set to
Prepair 500+ v1.863 XIAP Seb Lunke Marked gene: XIAP as ready
Prepair 500+ v1.863 XIAP Seb Lunke Gene: xiap has been classified as Green List (High Evidence).
Prepair 500+ v1.863 XIAP Seb Lunke Phenotypes for gene: XIAP were changed from Lymphoproliferative syndrome, X-linked, 2, 300635 (3) to Lymphoproliferative syndorme, X-linked, 2 MIM#300635
Prepair 500+ v1.862 XIAP Seb Lunke Publications for gene: XIAP were set to
Prepair 500+ v1.861 XPA Seb Lunke Marked gene: XPA as ready
Prepair 500+ v1.861 XPA Seb Lunke Gene: xpa has been classified as Green List (High Evidence).
Prepair 500+ v1.861 XPA Seb Lunke Phenotypes for gene: XPA were changed from Xeroderma pigmentosum, group A, 278700 (3) to Xeroderma pigmentosum, group A , MIM#278700
Prepair 500+ v1.860 XPC Seb Lunke Marked gene: XPC as ready
Prepair 500+ v1.860 XPC Seb Lunke Gene: xpc has been classified as Green List (High Evidence).
Prepair 500+ v1.860 XPC Seb Lunke Phenotypes for gene: XPC were changed from Xeroderma pigmentosum, group C, 278720 (3) to Xeroderma pigmentosum, group C, MIM#278720
Prepair 500+ v1.859 XPC Seb Lunke Publications for gene: XPC were set to
Prepair 500+ v1.858 YARS2 Seb Lunke Marked gene: YARS2 as ready
Prepair 500+ v1.858 YARS2 Seb Lunke Gene: yars2 has been classified as Green List (High Evidence).
Prepair 500+ v1.858 YARS2 Seb Lunke Phenotypes for gene: YARS2 were changed from Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) to Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561
Prepair 500+ v1.857 YARS2 Seb Lunke Publications for gene: YARS2 were set to
Prepair 500+ v1.856 ZBTB24 Seb Lunke Marked gene: ZBTB24 as ready
Prepair 500+ v1.856 ZBTB24 Seb Lunke Gene: zbtb24 has been classified as Green List (High Evidence).
Prepair 500+ v1.856 ZBTB24 Seb Lunke Phenotypes for gene: ZBTB24 were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3) to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069; MONDO:0013553
Prepair 500+ v1.855 ZBTB24 Seb Lunke Publications for gene: ZBTB24 were set to
Prepair 500+ v1.854 QDPR Zornitza Stark Marked gene: QDPR as ready
Prepair 500+ v1.854 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Prepair 500+ v1.854 QDPR Zornitza Stark Phenotypes for gene: QDPR were changed from Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 to Hyperphenylalaninaemia, BH4-deficient, C, MIM# 261630
Prepair 500+ v1.853 QDPR Zornitza Stark Phenotypes for gene: QDPR were changed from Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630
Prepair 500+ v1.852 QDPR Zornitza Stark Publications for gene: QDPR were set to
Prepair 500+ v1.851 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Prepair 500+ v1.851 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Prepair 500+ v1.851 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Prepair 500+ v1.850 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
Prepair 500+ v1.849 PTS Zornitza Stark Marked gene: PTS as ready
Prepair 500+ v1.849 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Prepair 500+ v1.849 PTS Zornitza Stark Phenotypes for gene: PTS were changed from Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; BH4-deficient hyperphenylalaninemia A, MONDO:0009863
Prepair 500+ v1.848 PTS Zornitza Stark Publications for gene: PTS were set to
Prepair 500+ v1.847 PSAP Zornitza Stark Marked gene: PSAP as ready
Prepair 500+ v1.847 PSAP Zornitza Stark Gene: psap has been classified as Green List (High Evidence).
Prepair 500+ v1.847 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) to Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900; Combined SAP deficiency, MIM #611721; Gaucher disease, atypical, MIM #610539; Krabbe disease, atypical, MIM #611722
Prepair 500+ v1.846 PSAP Zornitza Stark Publications for gene: PSAP were set to
Prepair 500+ v1.845 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Prepair 500+ v1.845 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Prepair 500+ v1.845 PRPS1 Zornitza Stark Phenotypes for gene: PRPS1 were changed from Arts syndrome, 301835 (3) to PRPS1 deficiency disorder MONDO:0100061; Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395
Prepair 500+ v1.844 PROP1 Zornitza Stark Marked gene: PROP1 as ready
Prepair 500+ v1.844 PROP1 Zornitza Stark Gene: prop1 has been classified as Green List (High Evidence).
Prepair 500+ v1.844 PROP1 Zornitza Stark Phenotypes for gene: PROP1 were changed from Pituitary hormone deficiency, combined, 2, 262600 (3) to Pituitary hormone deficiency, combined, 2, MIM#262600
Prepair 500+ v1.843 PRF1 Zornitza Stark Marked gene: PRF1 as ready
Prepair 500+ v1.843 PRF1 Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence).
Prepair 500+ v1.843 PRF1 Zornitza Stark Phenotypes for gene: PRF1 were changed from Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) to Haemophagocytic lymphohistiocytosis, familial, 2 MIM#603553
Prepair 500+ v1.842 PRF1 Zornitza Stark Publications for gene: PRF1 were set to
Prepair 500+ v1.841 PRDM5 Zornitza Stark Marked gene: PRDM5 as ready
Prepair 500+ v1.841 PRDM5 Zornitza Stark Gene: prdm5 has been classified as Green List (High Evidence).
Prepair 500+ v1.841 PRDM5 Zornitza Stark Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170 (3) to Brittle cornea syndrome 2, MIM#614170
Prepair 500+ v1.840 PRDM5 Zornitza Stark Publications for gene: PRDM5 were set to
Prepair 500+ v1.839 PQBP1 Zornitza Stark Marked gene: PQBP1 as ready
Prepair 500+ v1.839 PQBP1 Zornitza Stark Gene: pqbp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.839 PQBP1 Zornitza Stark Phenotypes for gene: PQBP1 were changed from Renpenning syndrome, 309500 (3) to Renpenning syndrome MIM#309500
Prepair 500+ v1.838 PQBP1 Zornitza Stark Publications for gene: PQBP1 were set to
Prepair 500+ v1.837 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Prepair 500+ v1.837 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Prepair 500+ v1.837 PPT1 Zornitza Stark Phenotypes for gene: PPT1 were changed from Ceroid lipofuscinosis, neuronal, 1, 256730 (3) to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730
Prepair 500+ v1.836 PPT1 Zornitza Stark Publications for gene: PPT1 were set to
Prepair 500+ v1.835 POU1F1 Zornitza Stark Marked gene: POU1F1 as ready
Prepair 500+ v1.835 POU1F1 Zornitza Stark Gene: pou1f1 has been classified as Green List (High Evidence).
Prepair 500+ v1.835 POU1F1 Zornitza Stark Phenotypes for gene: POU1F1 were changed from Pituitary hormone deficiency, combined, 1, 613038 (3) to Pituitary hormone deficiency, combined or isolated, 1, MIM#613038
Prepair 500+ v1.834 POU1F1 Zornitza Stark Publications for gene: POU1F1 were set to
Prepair 500+ v1.833 POR Zornitza Stark Marked gene: POR as ready
Prepair 500+ v1.833 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Prepair 500+ v1.833 POR Zornitza Stark Phenotypes for gene: POR were changed from Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MIM#201750)
Prepair 500+ v1.832 POR Zornitza Stark Publications for gene: POR were set to
Prepair 500+ v1.831 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Prepair 500+ v1.831 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Prepair 500+ v1.831 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156
Prepair 500+ v1.830 POMT2 Zornitza Stark Publications for gene: POMT2 were set to
Prepair 500+ v1.829 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Prepair 500+ v1.829 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Prepair 500+ v1.829 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) to Myopathy caused by variation in POMT1 MONDO:0700070
Prepair 500+ v1.828 POMT1 Zornitza Stark Publications for gene: POMT1 were set to
Prepair 500+ v1.827 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Prepair 500+ v1.827 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Prepair 500+ v1.827 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#61315
Prepair 500+ v1.826 POMGNT1 Zornitza Stark Publications for gene: POMGNT1 were set to
Prepair 500+ v1.825 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Prepair 500+ v1.825 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Prepair 500+ v1.825 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3) to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism,MIM#614381
Prepair 500+ v1.824 POLR3B Zornitza Stark Publications for gene: POLR3B were set to
Prepair 500+ v1.823 POLR1C Zornitza Stark Marked gene: POLR1C as ready
Prepair 500+ v1.823 POLR1C Zornitza Stark Gene: polr1c has been classified as Green List (High Evidence).
Prepair 500+ v1.823 POLR1C Zornitza Stark Phenotypes for gene: POLR1C were changed from Treacher Collins syndrome 3, 248390 (3) to Leukodystrophy, hypomyelinating, 11 MIM#616494; Treacher Collins syndrome 3 MIM#248390
Prepair 500+ v1.822 POLR1C Zornitza Stark Publications for gene: POLR1C were set to
Prepair 500+ v1.821 POLG Zornitza Stark Marked gene: POLG as ready
Prepair 500+ v1.821 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Prepair 500+ v1.821 POLG Zornitza Stark Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662
Prepair 500+ v1.820 PNPO Zornitza Stark Marked gene: PNPO as ready
Prepair 500+ v1.820 PNPO Zornitza Stark Gene: pnpo has been classified as Green List (High Evidence).
Prepair 500+ v1.820 PNPO Zornitza Stark Phenotypes for gene: PNPO were changed from Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) to Pyridoxamine 5'-phosphate oxidase deficiency MIM#610090
Prepair 500+ v1.819 PNPO Zornitza Stark Publications for gene: PNPO were set to
Prepair 500+ v1.818 PNKP Zornitza Stark Marked gene: PNKP as ready
Prepair 500+ v1.818 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Prepair 500+ v1.818 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from Microcephaly, seizures, and developmental delay, 613402 (3) to Ataxia-oculomotor apraxia 4, MIM# 616267; Microcephaly, seizures, and developmental delay, MIM# 613402
Prepair 500+ v1.817 PNKP Zornitza Stark Publications for gene: PNKP were set to
Prepair 500+ v1.816 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Prepair 500+ v1.816 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Prepair 500+ v1.816 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from Congenital disorder of glycosylation, type Ia, 212065 (3) to Congenital disorder of glycosylation, type Ia (MIM#212065)
Prepair 500+ v1.815 PLPBP Zornitza Stark Marked gene: PLPBP as ready
Prepair 500+ v1.815 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Prepair 500+ v1.815 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive to Epilepsy, early-onset, vitamin B6-dependent, MIM#617290
Prepair 500+ v1.814 PLPBP Zornitza Stark Publications for gene: PLPBP were set to
Prepair 500+ v1.813 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Prepair 500+ v1.813 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.813 PLP1 Zornitza Stark Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease, 312080 (3) to Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714; Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733
Prepair 500+ v1.812 PLP1 Zornitza Stark Publications for gene: PLP1 were set to
Prepair 500+ v1.811 PLOD1 Zornitza Stark Marked gene: PLOD1 as ready
Prepair 500+ v1.811 PLOD1 Zornitza Stark Gene: plod1 has been classified as Green List (High Evidence).
Prepair 500+ v1.811 PLOD1 Zornitza Stark Phenotypes for gene: PLOD1 were changed from Ehlers-Danlos syndrome, type VI, 225400 (3) to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400
Prepair 500+ v1.810 PLOD1 Zornitza Stark Publications for gene: PLOD1 were set to
Prepair 500+ v1.809 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Prepair 500+ v1.809 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Prepair 500+ v1.809 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Prepair 500+ v1.809 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Prepair 500+ v1.809 PKHD1 Zornitza Stark Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease, 263200 (3) to Polycystic kidney disease 4, with or without hepatic disease MIM#263200
Prepair 500+ v1.808 PKHD1 Zornitza Stark Publications for gene: PKHD1 were set to
Prepair 500+ v1.807 PIGT Zornitza Stark Marked gene: PIGT as ready
Prepair 500+ v1.807 PIGT Zornitza Stark Gene: pigt has been classified as Green List (High Evidence).
Prepair 500+ v1.807 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Prepair 500+ v1.806 PIGT Zornitza Stark Publications for gene: PIGT were set to
Prepair 500+ v1.805 PIGN Zornitza Stark Marked gene: PIGN as ready
Prepair 500+ v1.805 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Prepair 500+ v1.805 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3) to Multiple congenital anomalies-hypotonia-seizures syndrome 1,MIM#614080
Prepair 500+ v1.804 PIGN Zornitza Stark Publications for gene: PIGN were set to
Prepair 500+ v1.803 PIGG Zornitza Stark Marked gene: PIGG as ready
Prepair 500+ v1.803 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Prepair 500+ v1.803 PIGG Zornitza Stark Publications for gene: PIGG were set to
Prepair 500+ v1.802 PIBF1 Zornitza Stark Marked gene: PIBF1 as ready
Prepair 500+ v1.802 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Prepair 500+ v1.802 PHYH Zornitza Stark Marked gene: PHYH as ready
Prepair 500+ v1.802 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Prepair 500+ v1.802 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease, 266500 (3) to Refsum disease MIM#266500
Prepair 500+ v1.801 PHYH Zornitza Stark Publications for gene: PHYH were set to
Prepair 500+ v1.800 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Prepair 500+ v1.800 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Prepair 500+ v1.800 PHGDH Zornitza Stark Phenotypes for gene: PHGDH were changed from Neu-Laxova syndrome1, 256520 (3) to Neu-Laxova syndrome 1 MIM#256520; Phosphoglycerate dehydrogenase deficiency MIM#601815
Prepair 500+ v1.799 PHGDH Zornitza Stark Publications for gene: PHGDH were set to
Prepair 500+ v1.798 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Prepair 500+ v1.798 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Prepair 500+ v1.798 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from Mental retardation syndrome, X-linked, Siderius type, 300263 (3) to Intellectual developmental disorder, X-linked syndromic, Siderius type, MIM# 300263
Prepair 500+ v1.797 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Prepair 500+ v1.796 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Prepair 500+ v1.796 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Prepair 500+ v1.796 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from Immunodeficiency 23, 615816 (3) to Immunodeficiency 23, MIM# 615816
Prepair 500+ v1.795 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Prepair 500+ v1.794 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Prepair 500+ v1.794 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Prepair 500+ v1.794 PGM1 Zornitza Stark Phenotypes for gene: PGM1 were changed from Congenital disorder of glycosylation, type It, 614921 (3) to Congenital disorder of glycosylation, type It (MIM#614921)
Prepair 500+ v1.793 PGM1 Zornitza Stark Publications for gene: PGM1 were set to
Prepair 500+ v1.792 PGK1 Zornitza Stark Marked gene: PGK1 as ready
Prepair 500+ v1.792 PGK1 Zornitza Stark Gene: pgk1 has been classified as Green List (High Evidence).
Prepair 500+ v1.792 PGK1 Zornitza Stark Phenotypes for gene: PGK1 were changed from Phosphoglycerate kinase 1 deficiency, 300653 (3) to Phosphoglycerate kinase 1 deficiency (MIM#300653)
Prepair 500+ v1.791 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Prepair 500+ v1.791 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence).
Prepair 500+ v1.791 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from Hyperphosphatasia with mental retardation syndrome 3, 614207 (3) to Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207
Prepair 500+ v1.790 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Prepair 500+ v1.789 PFKM Zornitza Stark Marked gene: PFKM as ready
Prepair 500+ v1.789 PFKM Zornitza Stark Gene: pfkm has been classified as Green List (High Evidence).
Prepair 500+ v1.789 PFKM Zornitza Stark Phenotypes for gene: PFKM were changed from Glycogen storage disease VII, 232800 (3) to Glycogen storage disease VII MIM#232800
Prepair 500+ v1.788 PFKM Zornitza Stark Publications for gene: PFKM were set to
Prepair 500+ v1.787 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Prepair 500+ v1.787 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Prepair 500+ v1.787 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3) to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Prepair 500+ v1.786 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Prepair 500+ v1.785 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Prepair 500+ v1.785 PEX6 Zornitza Stark Gene: pex6 has been classified as Green List (High Evidence).
Prepair 500+ v1.785 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger), 614862 to Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862; Peroxisome biogenesis disorder-4B, MIM# 614863
Prepair 500+ v1.784 PEX6 Zornitza Stark Publications for gene: PEX6 were set to
Prepair 500+ v1.783 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Prepair 500+ v1.783 PEX5 Zornitza Stark Gene: pex5 has been classified as Green List (High Evidence).
Prepair 500+ v1.783 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from Peroxisome biogenesis disorder 2A (Zellweger), 214110 to Peroxisome biogenesis disorder 2A (Zellweger), MIM#214110
Prepair 500+ v1.782 PEX5 Zornitza Stark Publications for gene: PEX5 were set to
Prepair 500+ v1.781 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Prepair 500+ v1.781 PEX26 Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence).
Prepair 500+ v1.781 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from Peroxisome biogenesis disorder 7A (Zellweger), 614872 to Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938; Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939
Prepair 500+ v1.780 PEX26 Zornitza Stark Publications for gene: PEX26 were set to
Prepair 500+ v1.779 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Prepair 500+ v1.779 PEX2 Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence).
Prepair 500+ v1.779 PEX2 Zornitza Stark Phenotypes for gene: PEX2 were changed from Peroxisome biogenesis disorder 5A (Zellweger), 614866 to Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866; Peroxisome biogenesis disorder 5B, MIM#614867
Prepair 500+ v1.778 PEX2 Zornitza Stark Publications for gene: PEX2 were set to
Prepair 500+ v1.777 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Prepair 500+ v1.777 PEX16 Zornitza Stark Gene: pex16 has been classified as Green List (High Evidence).
Prepair 500+ v1.777 PEX16 Zornitza Stark Phenotypes for gene: PEX16 were changed from Peroxisome biogenesis disorder 8A, (Zellweger), 614876 to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Peroxisome biogenesis disorder 8B MIM#614877
Prepair 500+ v1.776 PEX16 Zornitza Stark Publications for gene: PEX16 were set to
Prepair 500+ v1.775 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Prepair 500+ v1.775 PEX13 Zornitza Stark Gene: pex13 has been classified as Green List (High Evidence).
Prepair 500+ v1.775 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from Peroxisome biogenesis disorder 11A (Zellweger), 614883 to Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883; Peroxisome biogenesis disorder 11B, MIM#614885
Prepair 500+ v1.774 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Prepair 500+ v1.774 PEX12 Zornitza Stark Gene: pex12 has been classified as Green List (High Evidence).
Prepair 500+ v1.774 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from Peroxisome biogenesis disorder 3A (Zellweger), 614859 to Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859; Peroxisome biogenesis disorder 3B, MIM#266510
Prepair 500+ v1.773 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Prepair 500+ v1.773 PEX10 Zornitza Stark Gene: pex10 has been classified as Green List (High Evidence).
Prepair 500+ v1.773 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from Peroxisome biogenesis disorder 6A (Zellweger), 614870 to Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870; Peroxisome biogenesis disorder 6B MIM#614871
Prepair 500+ v1.772 PEX10 Zornitza Stark Publications for gene: PEX10 were set to
Prepair 500+ v1.771 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Prepair 500+ v1.771 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Prepair 500+ v1.771 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from Peroxisome biogenesis disorder 1A (Zellweger), 214100 to Peroxisome biogenesis disorder 1A (Zellweger), MIM #214100; Heimler syndrome 1, MIM #234580; Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539; MONDO:0100259
Prepair 500+ v1.770 PEX1 Zornitza Stark Publications for gene: PEX1 were set to
Prepair 500+ v1.769 PET100 Zornitza Stark Marked gene: PET100 as ready
Prepair 500+ v1.769 PET100 Zornitza Stark Gene: pet100 has been classified as Green List (High Evidence).
Prepair 500+ v1.769 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from Mitochondrial complex IV deficiency, 220110 (3) to Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055
Prepair 500+ v1.768 PEPD Zornitza Stark Marked gene: PEPD as ready
Prepair 500+ v1.768 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Prepair 500+ v1.768 PEPD Zornitza Stark Phenotypes for gene: PEPD were changed from Prolidase deficiency, 170100 (3) to Prolidase deficiency, MIM# 170100
Prepair 500+ v1.767 PEPD Zornitza Stark Publications for gene: PEPD were set to
Prepair 500+ v1.766 PDHB Zornitza Stark Marked gene: PDHB as ready
Prepair 500+ v1.766 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Prepair 500+ v1.766 PDHB Zornitza Stark Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) to Pyruvate dehydrogenase E1-beta deficiency, MIM #614111
Prepair 500+ v1.765 PDHB Zornitza Stark Publications for gene: PDHB were set to
Prepair 500+ v1.764 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Prepair 500+ v1.764 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Prepair 500+ v1.764 PCNT Zornitza Stark Marked gene: PCNT as ready
Prepair 500+ v1.764 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Prepair 500+ v1.764 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Prepair 500+ v1.763 PCNT Zornitza Stark Publications for gene: PCNT were set to
Prepair 500+ v1.762 PCDH19 Zornitza Stark changed review comment from: Severe condition meets criteria for screening. Note it needs special filtering.; to: Severe condition meets criteria for screening. Note it needs special filtering to detect male carriers at risk of having affected female children.
Prepair 500+ v1.762 PCDH19 Zornitza Stark Marked gene: PCDH19 as ready
Prepair 500+ v1.762 PCDH19 Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence).
Prepair 500+ v1.762 PCDH15 Zornitza Stark Marked gene: PCDH15 as ready
Prepair 500+ v1.762 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Green List (High Evidence).
Prepair 500+ v1.762 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from Usher syndrome, type 1F, 602083 (3) to Usher syndrome, type 1F, MIM# 602083
Prepair 500+ v1.761 PCDH15 Zornitza Stark Publications for gene: PCDH15 were set to
Prepair 500+ v1.760 PCCB Zornitza Stark Marked gene: PCCB as ready
Prepair 500+ v1.760 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Prepair 500+ v1.760 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from Propionicacidemia, 606054 (3) to Propionicacidemia MIM#606054; propionic acidemia MONDO:0011628
Prepair 500+ v1.759 PCCB Zornitza Stark Publications for gene: PCCB were set to
Prepair 500+ v1.758 PCCA Zornitza Stark Marked gene: PCCA as ready
Prepair 500+ v1.758 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Prepair 500+ v1.758 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from Propionicacidemia, MIM#606054 to Propionicacidaemia, MIM#606054
Prepair 500+ v1.757 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from Propionicacidemia, 606054 (3) to Propionicacidemia, MIM#606054
Prepair 500+ v1.756 PCCA Zornitza Stark Publications for gene: PCCA were set to
Prepair 500+ v1.755 PC Zornitza Stark Marked gene: PC as ready
Prepair 500+ v1.755 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Prepair 500+ v1.755 PC Zornitza Stark Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, 266150 (3) to Pyruvate carboxylase deficiency (MIM#266150)
Prepair 500+ v1.754 PC Zornitza Stark Publications for gene: PC were set to
Prepair 500+ v1.753 PANK2 Zornitza Stark Marked gene: PANK2 as ready
Prepair 500+ v1.753 PANK2 Zornitza Stark Gene: pank2 has been classified as Green List (High Evidence).
Prepair 500+ v1.753 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1, MIM#234200 to HARP syndrome (MIM#607236); Neurodegeneration with brain iron accumulation 1 (MIM#234200)
Prepair 500+ v1.752 PAK3 Zornitza Stark Marked gene: PAK3 as ready
Prepair 500+ v1.752 PAK3 Zornitza Stark Gene: pak3 has been classified as Green List (High Evidence).
Prepair 500+ v1.752 PAK3 Zornitza Stark Phenotypes for gene: PAK3 were changed from Mental retardation, X-linked 30/47, 300558 (3) to Intellectual developmental disorder, X-linked 30 MIM#300558
Prepair 500+ v1.751 PAK3 Zornitza Stark Publications for gene: PAK3 were set to
Prepair 500+ v1.750 PAH Zornitza Stark Marked gene: PAH as ready
Prepair 500+ v1.750 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Prepair 500+ v1.750 PAH Zornitza Stark Phenotypes for gene: PAH were changed from Phenylketonuria,MIM#261600 to Phenylketonuria, MIM#261600
Prepair 500+ v1.749 PAH Zornitza Stark Phenotypes for gene: PAH were changed from Phenylketonuria, 261600 (3) to Phenylketonuria,MIM#261600
Prepair 500+ v1.748 PAH Zornitza Stark Publications for gene: PAH were set to
Prepair 500+ v1.747 P3H1 Zornitza Stark Marked gene: P3H1 as ready
Prepair 500+ v1.747 P3H1 Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence).
Prepair 500+ v1.747 P3H1 Zornitza Stark Phenotypes for gene: P3H1 were changed from Osteogenesis imperfecta, type VIII, 610915 (3) to Osteogenesis imperfecta, type VIII, MIM#610915
Prepair 500+ v1.746 P3H1 Zornitza Stark Publications for gene: P3H1 were set to
Prepair 500+ v1.745 OTC Zornitza Stark Marked gene: OTC as ready
Prepair 500+ v1.745 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Prepair 500+ v1.745 OTC Zornitza Stark Phenotypes for gene: OTC were changed from Ornithine transcarbamylase deficiency, 311250 (3) to Ornithine transcarbamylase deficiency, MIM# 311250
Prepair 500+ v1.744 OTC Zornitza Stark Publications for gene: OTC were set to
Prepair 500+ v1.743 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Prepair 500+ v1.743 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Green List (High Evidence).
Prepair 500+ v1.743 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from Osteopetrosis, autosomal recessive 5, 259720 (3) to Osteopetrosis, autosomal recessive 5, MIM#259720
Prepair 500+ v1.742 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Prepair 500+ v1.741 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Prepair 500+ v1.741 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Prepair 500+ v1.741 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) to Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486; X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337
Prepair 500+ v1.740 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Prepair 500+ v1.739 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Prepair 500+ v1.739 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Prepair 500+ v1.739 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from 3-methylglutaconic aciduria, type III, 258501 (3) to 3-methylglutaconic aciduria, type III MIM#258501; 3-methylglutaconic aciduria type 3 MONDO:0009787
Prepair 500+ v1.738 OPA3 Zornitza Stark Publications for gene: OPA3 were set to
Prepair 500+ v1.737 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Prepair 500+ v1.737 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Prepair 500+ v1.737 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Behr syndrome, 210000 (3), Autosomal recessive to Behr syndrome, MIM#210000
Prepair 500+ v1.736 OPA1 Zornitza Stark Publications for gene: OPA1 were set to
Prepair 500+ v1.735 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Prepair 500+ v1.735 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Prepair 500+ v1.735 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from Joubert syndrome 10, 300804 (3) to Joubert syndrome 10 MIM#300804; Simpson-Golabi-Behmel syndrome, type 2 MIM#300209; Retinitis pigmentosa 23 MIM#300424
Prepair 500+ v1.734 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Prepair 500+ v1.733 OCRL Zornitza Stark Marked gene: OCRL as ready
Prepair 500+ v1.733 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Prepair 500+ v1.733 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000 (3) to Dent disease 2 MIM#300555; Lowe syndrome MIM#309000
Prepair 500+ v1.732 OCRL Zornitza Stark Publications for gene: OCRL were set to
Prepair 500+ v1.731 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Prepair 500+ v1.731 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Prepair 500+ v1.731 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from Insensitivity to pain, congenital, with anhidrosis, 256800 (3) to Insensitivity to pain, congenital, with anhidrosis MIM#256800
Prepair 500+ v1.730 NTRK1 Zornitza Stark Publications for gene: NTRK1 were set to
Prepair 500+ v1.729 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Prepair 500+ v1.729 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence).
Prepair 500+ v1.729 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from 46XY sex reversal 2, dosage-sensitive, 300018 (3) to Adrenal hypoplasia, congenital, MIM#300200
Prepair 500+ v1.728 NR0B1 Zornitza Stark Publications for gene: NR0B1 were set to
Prepair 500+ v1.727 NPHS2 Zornitza Stark Marked gene: NPHS2 as ready
Prepair 500+ v1.727 NPHS2 Zornitza Stark Gene: nphs2 has been classified as Green List (High Evidence).
Prepair 500+ v1.727 NPHS2 Zornitza Stark Phenotypes for gene: NPHS2 were changed from Nephrotic syndrome, type 2, 600995 (3) to Nephrotic syndrome, type 2 MIM#600995
Prepair 500+ v1.726 NPHS2 Zornitza Stark Publications for gene: NPHS2 were set to
Prepair 500+ v1.725 NPHS1 Zornitza Stark Marked gene: NPHS1 as ready
Prepair 500+ v1.725 NPHS1 Zornitza Stark Gene: nphs1 has been classified as Green List (High Evidence).
Prepair 500+ v1.725 NPHS1 Zornitza Stark Phenotypes for gene: NPHS1 were changed from Nephrotic syndrome, type 1, 256300 (3) to Nephrotic syndrome, type 1, MIM# 256300; congenital nephrotic syndrome, Finnish type MONDO:0009732
Prepair 500+ v1.724 NPHS1 Zornitza Stark Publications for gene: NPHS1 were set to
Prepair 500+ v1.723 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Prepair 500+ v1.723 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Prepair 500+ v1.723 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from Meckel syndrome 7, 267010 (3) to Renal-hepatic-pancreatic dysplasia 1 MIM#208540; Meckel syndrome 7 MIM#267010; Nephronophthisis 3 MIM#604387
Prepair 500+ v1.722 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Prepair 500+ v1.722 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.722 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from Joubert syndrome 4, 609583 (3) to Nephronophthisis 1, juvenile MIM#256100; Joubert syndrome 4 MIM#609583; Senior-Loken syndrome-1 MIM#266900
Prepair 500+ v1.721 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Prepair 500+ v1.721 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Prepair 500+ v1.721 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Prepair 500+ v1.721 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Prepair 500+ v1.721 NPC1 Zornitza Stark Publications for gene: NPC1 were set to 11333381; 26910362
Prepair 500+ v1.720 NNT Zornitza Stark Marked gene: NNT as ready
Prepair 500+ v1.720 NNT Zornitza Stark Gene: nnt has been classified as Green List (High Evidence).
Prepair 500+ v1.720 NNT Zornitza Stark Phenotypes for gene: NNT were changed from Glucocorticoid deficiency 4, 614736 (3) to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736; MONDO:0013874
Prepair 500+ v1.719 NNT Zornitza Stark Publications for gene: NNT were set to
Prepair 500+ v1.718 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Prepair 500+ v1.718 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence).
Prepair 500+ v1.718 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from Congenital disorder of deglycosylation, 615273 (3) to Congenital disorder of deglycosylation, MIM#615273
Prepair 500+ v1.717 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Prepair 500+ v1.716 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Prepair 500+ v1.716 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Prepair 500+ v1.716 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from Sialidosis, type I, 256550 (3) to Sialidosis, type I, MIM #256550; Sialidosis, type II, MIM #256550
Prepair 500+ v1.715 NEU1 Zornitza Stark Publications for gene: NEU1 were set to
Prepair 500+ v1.714 NEB Zornitza Stark Marked gene: NEB as ready
Prepair 500+ v1.714 NEB Zornitza Stark Gene: neb has been classified as Green List (High Evidence).
Prepair 500+ v1.714 NEB Zornitza Stark Publications for gene: NEB were set to 27228465
Prepair 500+ v1.713 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Prepair 500+ v1.713 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Prepair 500+ v1.713 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Prepair 500+ v1.712 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Prepair 500+ v1.711 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Prepair 500+ v1.711 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Green List (High Evidence).
Prepair 500+ v1.711 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from Leigh syndrome, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Prepair 500+ v1.710 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Prepair 500+ v1.709 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Prepair 500+ v1.709 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Prepair 500+ v1.709 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232)
Prepair 500+ v1.708 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Prepair 500+ v1.707 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Prepair 500+ v1.707 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Prepair 500+ v1.707 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from Leigh syndrome, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 1, MIM#252010
Prepair 500+ v1.706 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Prepair 500+ v1.706 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
Prepair 500+ v1.706 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from Mitochondrial complex 1 deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 16 MIM#618238
Prepair 500+ v1.705 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Prepair 500+ v1.705 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Green List (High Evidence).
Prepair 500+ v1.705 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from Leigh syndrome, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 10, MIM#618233
Prepair 500+ v1.704 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Prepair 500+ v1.703 NDRG1 Zornitza Stark Marked gene: NDRG1 as ready
Prepair 500+ v1.703 NDRG1 Zornitza Stark Gene: ndrg1 has been classified as Green List (High Evidence).
Prepair 500+ v1.703 NDRG1 Zornitza Stark Phenotypes for gene: NDRG1 were changed from Charcot-Marie-Tooth disease, type 4D, 601455 (3) to Charcot-Marie-Tooth disease, type 4D MIM#601455
Prepair 500+ v1.702 NDP Zornitza Stark Marked gene: NDP as ready
Prepair 500+ v1.702 NDP Zornitza Stark Gene: ndp has been classified as Green List (High Evidence).
Prepair 500+ v1.702 NDP Zornitza Stark Phenotypes for gene: NDP were changed from Norrie disease, 310600 (3) to Norrie disease, MIM# 310600
Prepair 500+ v1.701 NDP Zornitza Stark Publications for gene: NDP were set to
Prepair 500+ v1.700 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Prepair 500+ v1.700 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Prepair 500+ v1.700 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from Lissencephaly 4 (with microcephaly), 614019 (3) to Lissencephaly 4 (with microcephaly), MIM#614019
Prepair 500+ v1.699 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Prepair 500+ v1.698 NCF2 Zornitza Stark Marked gene: NCF2 as ready
Prepair 500+ v1.698 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
Prepair 500+ v1.698 NCF2 Zornitza Stark Phenotypes for gene: NCF2 were changed from Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) to Chronic granulomatous disease 2, autosomal recessive, MIM# 233710
Prepair 500+ v1.697 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
Prepair 500+ v1.696 NBN Zornitza Stark Marked gene: NBN as ready
Prepair 500+ v1.696 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Prepair 500+ v1.696 NBN Zornitza Stark Phenotypes for gene: NBN were changed from Nijmegen breakage syndrome, 251260 (3) to Nijmegen breakage syndrome (MIM#251260)
Prepair 500+ v1.695 NBN Zornitza Stark Publications for gene: NBN were set to
Prepair 500+ v1.694 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Prepair 500+ v1.694 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Prepair 500+ v1.694 NARS2 Zornitza Stark Phenotypes for gene: NARS2 were changed from Combined oxidative phosphorylation deficiency 24, 616239 (3) to Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547
Prepair 500+ v1.693 NARS2 Zornitza Stark Publications for gene: NARS2 were set to
Prepair 500+ v1.692 NALCN Zornitza Stark Marked gene: NALCN as ready
Prepair 500+ v1.692 NALCN Zornitza Stark Gene: nalcn has been classified as Green List (High Evidence).
Prepair 500+ v1.692 NALCN Zornitza Stark Phenotypes for gene: NALCN were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3) to Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Prepair 500+ v1.691 NALCN Zornitza Stark Publications for gene: NALCN were set to
Prepair 500+ v1.690 NAGS Zornitza Stark Marked gene: NAGS as ready
Prepair 500+ v1.690 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Prepair 500+ v1.690 NAGS Zornitza Stark Phenotypes for gene: NAGS were changed from N-acetylglutamate synthase deficiency, 237310 (3) to N-acetylglutamate synthase deficiency MIM#237310
Prepair 500+ v1.689 NAGS Zornitza Stark Publications for gene: NAGS were set to
Prepair 500+ v1.688 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Prepair 500+ v1.688 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Prepair 500+ v1.688 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3) to Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920
Prepair 500+ v1.687 NAGLU Zornitza Stark Publications for gene: NAGLU were set to
Prepair 500+ v1.686 NAGA Zornitza Stark Marked gene: NAGA as ready
Prepair 500+ v1.686 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Prepair 500+ v1.686 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from Schindler disease, type I, 609241 (3) to Schindler disease, type I MIM#609241; Schindler disease, type III MIM#609241
Prepair 500+ v1.685 NAGA Zornitza Stark Publications for gene: NAGA were set to
Prepair 500+ v1.684 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Prepair 500+ v1.684 MYO7A Zornitza Stark Gene: myo7a has been classified as Green List (High Evidence).
Prepair 500+ v1.684 MYO7A Zornitza Stark Phenotypes for gene: MYO7A were changed from Usher syndrome, type 1B, 276900 (3) to Usher syndrome, type 1B, MIM# 276900
Prepair 500+ v1.683 MYO7A Zornitza Stark Publications for gene: MYO7A were set to
Prepair 500+ v1.682 MYO5B Zornitza Stark Marked gene: MYO5B as ready
Prepair 500+ v1.682 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Prepair 500+ v1.682 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, 251850 (3) to Cholestasis, progressive familial intrahepatic, 10, MIM#619868; Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850
Prepair 500+ v1.681 MYO5B Zornitza Stark Publications for gene: MYO5B were set to
Prepair 500+ v1.680 MVK Zornitza Stark Marked gene: MVK as ready
Prepair 500+ v1.680 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Prepair 500+ v1.680 MVK Zornitza Stark Phenotypes for gene: MVK were changed from Mevalonic aciduria, 610377 (3) to Mevalonic aciduria, MIM#610377; Hyper-IgD syndrome, MIM#260920
Prepair 500+ v1.679 MVK Zornitza Stark Publications for gene: MVK were set to
Prepair 500+ v1.678 MUT Zornitza Stark Marked gene: MUT as ready
Prepair 500+ v1.678 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Prepair 500+ v1.678 MUT Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria, mut(0) type, 251000 (3) to Methylmalonic aciduria, mut(0) type, MIM# 251000
Prepair 500+ v1.677 MUSK Zornitza Stark Marked gene: MUSK as ready
Prepair 500+ v1.677 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Prepair 500+ v1.677 MUSK Zornitza Stark Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3) to Fetal akinesia deformation sequence 1 MIM#208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325
Prepair 500+ v1.676 MUSK Zornitza Stark Publications for gene: MUSK were set to
Prepair 500+ v1.675 MTTP Zornitza Stark Marked gene: MTTP as ready
Prepair 500+ v1.675 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Prepair 500+ v1.675 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from Abetalipoproteinemia, 200100 (3) to Abetalipoproteinaemia MIM#200100
Prepair 500+ v1.674 MTTP Zornitza Stark Publications for gene: MTTP were set to
Prepair 500+ v1.673 MTRR Zornitza Stark Marked gene: MTRR as ready
Prepair 500+ v1.673 MTRR Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence).
Prepair 500+ v1.673 MTRR Zornitza Stark Phenotypes for gene: MTRR were changed from Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) to Homocystinuria-megaloblastic anemia, cbl E type, MIM #236270
Prepair 500+ v1.672 MTRR Zornitza Stark Publications for gene: MTRR were set to
Prepair 500+ v1.671 MTR Zornitza Stark Marked gene: MTR as ready
Prepair 500+ v1.671 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Prepair 500+ v1.671 MTR Zornitza Stark Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) to Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940
Prepair 500+ v1.670 MTR Zornitza Stark Publications for gene: MTR were set to
Prepair 500+ v1.669 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Prepair 500+ v1.669 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Green List (High Evidence).
Prepair 500+ v1.669 MTMR2 Zornitza Stark Phenotypes for gene: MTMR2 were changed from Charcot-Marie-Tooth disease, type 4B1, 601382 (3) to Charcot-Marie-Tooth disease, type 4B1, MIM#601382
Prepair 500+ v1.668 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Prepair 500+ v1.668 MTM1 Zornitza Stark Gene: mtm1 has been classified as Green List (High Evidence).
Prepair 500+ v1.668 MTM1 Zornitza Stark Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked, 310400 (3) to Myopathy, centronuclear, X-linked MIM#310400
Prepair 500+ v1.667 MTM1 Zornitza Stark Publications for gene: MTM1 were set to
Prepair 500+ v1.666 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Prepair 500+ v1.666 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Prepair 500+ v1.666 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from Homocystinuria due to MTHFR deficiency, 236250 (3) to Homocystinuria due to MTHFR deficiency, MIM# 236250
Prepair 500+ v1.665 MTHFR Zornitza Stark Publications for gene: MTHFR were set to
Prepair 500+ v1.664 MTFMT Zornitza Stark Marked gene: MTFMT as ready
Prepair 500+ v1.664 MTFMT Zornitza Stark Gene: mtfmt has been classified as Green List (High Evidence).
Prepair 500+ v1.664 MTFMT Zornitza Stark Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15, 614947 (3) to Combined oxidative phosphorylation deficiency 15, MIM#614947
Prepair 500+ v1.663 MTFMT Zornitza Stark Publications for gene: MTFMT were set to
Prepair 500+ v1.662 MRE11 Zornitza Stark Marked gene: MRE11 as ready
Prepair 500+ v1.662 MRE11 Zornitza Stark Gene: mre11 has been classified as Green List (High Evidence).
Prepair 500+ v1.662 MRE11 Zornitza Stark Phenotypes for gene: MRE11 were changed from Ataxia-telangiectasia-like disorder, 604391 (3) to Ataxia-telangiectasia-like disorder, MIM#604391
Prepair 500+ v1.661 MRE11 Zornitza Stark Publications for gene: MRE11 were set to
Prepair 500+ v1.660 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Prepair 500+ v1.660 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Prepair 500+ v1.660 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) to Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810
Prepair 500+ v1.659 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Prepair 500+ v1.658 MPL Zornitza Stark Marked gene: MPL as ready
Prepair 500+ v1.658 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Prepair 500+ v1.658 MPL Zornitza Stark Phenotypes for gene: MPL were changed from Thrombocytopenia, congenital amegakaryocytic, 604498 (3) to Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498
Prepair 500+ v1.657 MPL Zornitza Stark Publications for gene: MPL were set to
Prepair 500+ v1.656 MPI Zornitza Stark Marked gene: MPI as ready
Prepair 500+ v1.656 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Prepair 500+ v1.656 MPI Zornitza Stark Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib, 602579 (3) to Congenital disorder of glycosylation, type Ib, MIM# 602579
Prepair 500+ v1.655 MPI Zornitza Stark Publications for gene: MPI were set to
Prepair 500+ v1.654 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
Prepair 500+ v1.654 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Green List (High Evidence).
Prepair 500+ v1.654 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from Molybdenum cofactor deficiency B, 252160 (3) to Molybdenum cofactor deficiency B (MIM#252160)
Prepair 500+ v1.653 MOCS2 Zornitza Stark Publications for gene: MOCS2 were set to
Prepair 500+ v1.652 MOCS1 Zornitza Stark Marked gene: MOCS1 as ready
Prepair 500+ v1.652 MOCS1 Zornitza Stark Gene: mocs1 has been classified as Green List (High Evidence).
Prepair 500+ v1.652 MOCS1 Zornitza Stark Phenotypes for gene: MOCS1 were changed from Molybdenum cofactor deficiency A, 252150 (3) to Molybdenum cofactor deficiency A (MIM#252150)
Prepair 500+ v1.651 MOCS1 Zornitza Stark Publications for gene: MOCS1 were set to
Prepair 500+ v1.650 MMADHC Zornitza Stark Marked gene: MMADHC as ready
Prepair 500+ v1.650 MMADHC Zornitza Stark Gene: mmadhc has been classified as Green List (High Evidence).
Prepair 500+ v1.650 MMADHC Zornitza Stark Phenotypes for gene: MMADHC were changed from Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism
Prepair 500+ v1.649 MMADHC Zornitza Stark Publications for gene: MMADHC were set to
Prepair 500+ v1.648 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Prepair 500+ v1.648 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Prepair 500+ v1.648 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Prepair 500+ v1.647 MMACHC Zornitza Stark Publications for gene: MMACHC were set to
Prepair 500+ v1.646 MMAB Zornitza Stark Marked gene: MMAB as ready
Prepair 500+ v1.646 MMAB Zornitza Stark Gene: mmab has been classified as Green List (High Evidence).
Prepair 500+ v1.646 MMAB Zornitza Stark Phenotypes for gene: MMAB were changed from Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) to Methylmalonic aciduria, vitamin B12-responsive, cblB type MIM#251110
Prepair 500+ v1.645 MMAB Zornitza Stark Publications for gene: MMAB were set to
Prepair 500+ v1.644 MMAA Zornitza Stark Marked gene: MMAA as ready
Prepair 500+ v1.644 MMAA Zornitza Stark Gene: mmaa has been classified as Green List (High Evidence).
Prepair 500+ v1.644 MMAA Zornitza Stark Phenotypes for gene: MMAA were changed from Methylmalonic aciduria, vitamin B12-responsive, 251100 (3) to Methylmalonic aciduria, vitamin B12-responsive, MIM#251100
Prepair 500+ v1.643 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Prepair 500+ v1.643 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Prepair 500+ v1.643 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from Malonyl-CoA decarboxylase deficiency, 248360 (3) to Malonyl-CoA decarboxylase deficiency, MIM#248360
Prepair 500+ v1.642 MLC1 Zornitza Stark Marked gene: MLC1 as ready
Prepair 500+ v1.642 MLC1 Zornitza Stark Gene: mlc1 has been classified as Green List (High Evidence).
Prepair 500+ v1.642 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) to Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004
Prepair 500+ v1.641 MLC1 Zornitza Stark Publications for gene: MLC1 were set to
Prepair 500+ v1.640 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Prepair 500+ v1.640 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Prepair 500+ v1.640 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from Meckel syndrome 1, 249000 (3) to Bardet-Biedl syndrome 13 MIM#615990; Joubert syndrome 28 MIM#617121; Meckel syndrome 1 MIM#249000; Ciliopathy MONDO:0005308
Prepair 500+ v1.639 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Prepair 500+ v1.638 MKKS Zornitza Stark Marked gene: MKKS as ready
Prepair 500+ v1.638 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Prepair 500+ v1.638 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from McKusick-Kaufman syndrome, 236700 (3) to Bardet-Biedl syndrome 6 MIM#605231; McKusick-Kaufman syndrome MIM#236700; MKKS-related ciliopathy MONDO:1040050
Prepair 500+ v1.637 MKKS Zornitza Stark Publications for gene: MKKS were set to
Prepair 500+ v1.636 MID1 Zornitza Stark Marked gene: MID1 as ready
Prepair 500+ v1.636 MID1 Zornitza Stark Gene: mid1 has been classified as Green List (High Evidence).
Prepair 500+ v1.636 MID1 Zornitza Stark Phenotypes for gene: MID1 were changed from Opitz GBBB syndrome, type I, 300000 (3) to Opitz GBBB syndrome MIM#300000; MONDO:0017138
Prepair 500+ v1.635 MID1 Zornitza Stark Publications for gene: MID1 were set to
Prepair 500+ v1.634 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Prepair 500+ v1.634 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Prepair 500+ v1.634 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7, 610951 (3) to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588
Prepair 500+ v1.633 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Prepair 500+ v1.632 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Prepair 500+ v1.632 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Prepair 500+ v1.632 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive to Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800
Prepair 500+ v1.631 MFN2 Zornitza Stark Publications for gene: MFN2 were set to
Prepair 500+ v1.630 METTL23 Zornitza Stark Marked gene: METTL23 as ready
Prepair 500+ v1.630 METTL23 Zornitza Stark Gene: mettl23 has been classified as Green List (High Evidence).
Prepair 500+ v1.630 METTL23 Zornitza Stark Phenotypes for gene: METTL23 were changed from Mental retardation, autosomal recessive 44, 615942 (3) to Intellectual developmental disorder, autosomal recessive 44, MIM #615942
Prepair 500+ v1.629 METTL23 Zornitza Stark Publications for gene: METTL23 were set to
Prepair 500+ v1.628 MESP2 Zornitza Stark Marked gene: MESP2 as ready
Prepair 500+ v1.628 MESP2 Zornitza Stark Gene: mesp2 has been classified as Green List (High Evidence).
Prepair 500+ v1.628 MESP2 Zornitza Stark Phenotypes for gene: MESP2 were changed from Spondylocostal dysostosis 2, autosomal recessive, 608681 (3) to Spondylocostal dysostosis 2, MIM #608681
Prepair 500+ v1.627 MESP2 Zornitza Stark Publications for gene: MESP2 were set to
Prepair 500+ v1.626 MED17 Zornitza Stark Marked gene: MED17 as ready
Prepair 500+ v1.626 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Prepair 500+ v1.626 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3) to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Prepair 500+ v1.625 MED17 Zornitza Stark Publications for gene: MED17 were set to
Prepair 500+ v1.624 MED12 Zornitza Stark Marked gene: MED12 as ready
Prepair 500+ v1.624 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Prepair 500+ v1.624 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Lujan-Fryns syndrome, 309520 (3) to MED12-related intellectual disability syndrome, MONDO:0100000
Prepair 500+ v1.623 MED12 Zornitza Stark Publications for gene: MED12 were set to
Prepair 500+ v1.622 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Prepair 500+ v1.622 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Prepair 500+ v1.622 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from Encephalopathy, neonatal severe, 300673 (3) to Encephalopathy, neonatal severe MIM#300673; Intellectual developmental disorder, X-linked syndromic 13 MIM#300055; Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260
Prepair 500+ v1.621 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
Prepair 500+ v1.620 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Prepair 500+ v1.620 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Green List (High Evidence).
Prepair 500+ v1.620 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive, 251200 (3) to Microcephaly 1, primary, autosomal recessive, MIM#251200
Prepair 500+ v1.619 MCPH1 Zornitza Stark Publications for gene: MCPH1 were set to
Prepair 500+ v1.618 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Prepair 500+ v1.618 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Prepair 500+ v1.618 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV, 252650 (3) to Mucolipidosis IV MIM#252650
Prepair 500+ v1.617 MCOLN1 Zornitza Stark Publications for gene: MCOLN1 were set to
Prepair 500+ v1.616 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Prepair 500+ v1.616 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.616 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from 3MC syndrome 1, 257920 (3) to 3MC syndrome 1, MIM# 257920
Prepair 500+ v1.615 MASP1 Zornitza Stark Publications for gene: MASP1 were set to
Prepair 500+ v1.614 MANBA Zornitza Stark Marked gene: MANBA as ready
Prepair 500+ v1.614 MANBA Zornitza Stark Gene: manba has been classified as Green List (High Evidence).
Prepair 500+ v1.614 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from Mannosidosis, beta, 248510 (3) to Mannosidosis, beta, MIM#248510
Prepair 500+ v1.613 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Prepair 500+ v1.613 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Prepair 500+ v1.613 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II, 248500 (3) to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Prepair 500+ v1.612 ZDHHC9 Seb Lunke Marked gene: ZDHHC9 as ready
Prepair 500+ v1.612 ZDHHC9 Seb Lunke Gene: zdhhc9 has been classified as Green List (High Evidence).
Prepair 500+ v1.612 ZDHHC9 Seb Lunke Tag SV/CNV tag was added to gene: ZDHHC9.
Prepair 500+ v1.612 ZDHHC9 Seb Lunke Phenotypes for gene: ZDHHC9 were changed from Mental retardation, X-linked syndromic, Raymond type, 300799 (3) to Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427
Prepair 500+ v1.611 ZDHHC9 Seb Lunke Publications for gene: ZDHHC9 were set to
Prepair 500+ v1.610 ZFYVE26 Seb Lunke Marked gene: ZFYVE26 as ready
Prepair 500+ v1.610 ZFYVE26 Seb Lunke Gene: zfyve26 has been classified as Green List (High Evidence).
Prepair 500+ v1.610 ZFYVE26 Seb Lunke Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive, 270700 (3) to Spastic paraplegia 15, autosomal recessive MIM#270700
Prepair 500+ v1.609 ZFYVE26 Seb Lunke Publications for gene: ZFYVE26 were set to
Prepair 500+ v1.608 ZNF711 Seb Lunke Marked gene: ZNF711 as ready
Prepair 500+ v1.608 ZNF711 Seb Lunke Gene: znf711 has been classified as Green List (High Evidence).
Prepair 500+ v1.608 ZNF711 Seb Lunke Phenotypes for gene: ZNF711 were changed from Mental retardation, X-linked 97, 300803 (3) to Intellectual developmental disorder, X-linked 97, MIM# 300803
Prepair 500+ v1.607 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Prepair 500+ v1.607 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Prepair 500+ v1.607 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from Bardet-Biedl syndrome 17, 615994 (3) to Bardet-Biedl syndrome 17 MIM#615994; MONDO:0014445
Prepair 500+ v1.606 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Prepair 500+ v1.605 LYST Zornitza Stark Marked gene: LYST as ready
Prepair 500+ v1.605 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Prepair 500+ v1.605 LYST Zornitza Stark Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome, 214500 (3) to Chediak-Higashi syndrome MIM#214500
Prepair 500+ v1.604 LYST Zornitza Stark Publications for gene: LYST were set to
Prepair 500+ v1.603 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Prepair 500+ v1.603 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Green List (High Evidence).
Prepair 500+ v1.603 LRPPRC Zornitza Stark Phenotypes for gene: LRPPRC were changed from Leigh syndrome, French-Canadian type, 220111 (3) to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) 220111 (3)
Prepair 500+ v1.602 LRPPRC Zornitza Stark Publications for gene: LRPPRC were set to
Prepair 500+ v1.601 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Prepair 500+ v1.601 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Prepair 500+ v1.601 LRP2 Zornitza Stark Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome, 222448 (3) to Donnai-Barrow syndrome, MIM #222448
Prepair 500+ v1.600 LRP2 Zornitza Stark Publications for gene: LRP2 were set to
Prepair 500+ v1.599 LRAT Zornitza Stark Marked gene: LRAT as ready
Prepair 500+ v1.599 LRAT Zornitza Stark Gene: lrat has been classified as Green List (High Evidence).
Prepair 500+ v1.599 LRAT Zornitza Stark Phenotypes for gene: LRAT were changed from Leber congenital amaurosis 14, 613341 (3) to Retinal dystrophy, early-onset severe; Leber congenital amaurosis 14; Retinitis pigmentosa, juvenile, all under MIM #613341
Prepair 500+ v1.598 LRAT Zornitza Stark Publications for gene: LRAT were set to
Prepair 500+ v1.597 LPL Zornitza Stark Marked gene: LPL as ready
Prepair 500+ v1.597 LPL Zornitza Stark Gene: lpl has been classified as Green List (High Evidence).
Prepair 500+ v1.597 LPL Zornitza Stark Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency, 238600 (3) to Lipoprotein lipase deficiency MIM#238600
Prepair 500+ v1.596 LMNA Zornitza Stark Marked gene: LMNA as ready
Prepair 500+ v1.596 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Prepair 500+ v1.596 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from Restrictive dermopathy, lethal, 275210 (3) to Restrictive dermopathy, lethal, MIM#275210; Mandibuloacral dysplasia, MIM# 248370
Prepair 500+ v1.595 LMBRD1 Zornitza Stark Marked gene: LMBRD1 as ready
Prepair 500+ v1.595 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
Prepair 500+ v1.595 LMBRD1 Zornitza Stark Phenotypes for gene: LMBRD1 were changed from Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) to Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380
Prepair 500+ v1.594 LMBRD1 Zornitza Stark Publications for gene: LMBRD1 were set to
Prepair 500+ v1.593 LIPA Zornitza Stark Marked gene: LIPA as ready
Prepair 500+ v1.593 LIPA Zornitza Stark Gene: lipa has been classified as Green List (High Evidence).
Prepair 500+ v1.593 LIPA Zornitza Stark Phenotypes for gene: LIPA were changed from Cholesteryl ester storage disease, 278000 (3) to Wolman disease, MIM#620151; Cholesteryl ester storage disease, MIM#278000
Prepair 500+ v1.592 LIPA Zornitza Stark Publications for gene: LIPA were set to
Prepair 500+ v1.591 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Prepair 500+ v1.591 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Prepair 500+ v1.591 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from LIG4 syndrome, 606593 (3) to LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686
Prepair 500+ v1.590 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Prepair 500+ v1.589 LIFR Zornitza Stark Marked gene: LIFR as ready
Prepair 500+ v1.589 LIFR Zornitza Stark Gene: lifr has been classified as Green List (High Evidence).
Prepair 500+ v1.589 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3) to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559
Prepair 500+ v1.588 LIFR Zornitza Stark Publications for gene: LIFR were set to
Prepair 500+ v1.587 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Prepair 500+ v1.587 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Prepair 500+ v1.587 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, 221750 (3) to Pituitary hormone deficiency, combined, 3 (MIM# 221750)
Prepair 500+ v1.586 LHX3 Zornitza Stark Publications for gene: LHX3 were set to
Prepair 500+ v1.585 LDLRAP1 Zornitza Stark Marked gene: LDLRAP1 as ready
Prepair 500+ v1.585 LDLRAP1 Zornitza Stark Gene: ldlrap1 has been classified as Green List (High Evidence).
Prepair 500+ v1.585 LDLRAP1 Zornitza Stark Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, autosomal recessive, 603813 (3) to Familial hypercholesterolemia 4, MIM#603813
Prepair 500+ v1.584 LDLRAP1 Zornitza Stark Publications for gene: LDLRAP1 were set to
Prepair 500+ v1.583 LDLR Zornitza Stark Marked gene: LDLR as ready
Prepair 500+ v1.583 LDLR Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence).
Prepair 500+ v1.583 LDLR Zornitza Stark Phenotypes for gene: LDLR were changed from LDL cholesterol level QTL2/Hypercholesterolemia, familial to Hypercholesterolaemia, familial, 1, MIM# 143890
Prepair 500+ v1.582 LCA5 Zornitza Stark Marked gene: LCA5 as ready
Prepair 500+ v1.582 LCA5 Zornitza Stark Gene: lca5 has been classified as Green List (High Evidence).
Prepair 500+ v1.582 LCA5 Zornitza Stark Phenotypes for gene: LCA5 were changed from Leber congenital amaurosis 5, 604537 (3) to Leber congenital amaurosis 5, MIM# 604537
Prepair 500+ v1.581 LCA5 Zornitza Stark Publications for gene: LCA5 were set to
Prepair 500+ v1.580 LARS Zornitza Stark Tag new gene name tag was added to gene: LARS.
Prepair 500+ v1.580 LARS Zornitza Stark Marked gene: LARS as ready
Prepair 500+ v1.580 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Prepair 500+ v1.580 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Prepair 500+ v1.580 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Prepair 500+ v1.580 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, MIM #608840
Prepair 500+ v1.579 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to
Prepair 500+ v1.578 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
Prepair 500+ v1.578 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Green List (High Evidence).
Prepair 500+ v1.578 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) to Epidermolysis bullosa, junctional 3B, severe MIM #619786; Epidermolysis bullosa, junctional 3A, intermediate MIM #619785
Prepair 500+ v1.577 LAMC2 Zornitza Stark Publications for gene: LAMC2 were set to
Prepair 500+ v1.576 LAMB3 Zornitza Stark Marked gene: LAMB3 as ready
Prepair 500+ v1.576 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Green List (High Evidence).
Prepair 500+ v1.576 LAMB3 Zornitza Stark Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) to Epidermolysis bullosa, junctional 1A, intermediate MIM#226650; Epidermolysis bullosa, junctional 1B, severe MIM#226700
Prepair 500+ v1.575 LAMB3 Zornitza Stark Publications for gene: LAMB3 were set to
Prepair 500+ v1.574 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Prepair 500+ v1.574 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence).
Prepair 500+ v1.574 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from Pierson syndrome, 609049 (3) to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
Prepair 500+ v1.573 LAMB1 Zornitza Stark Marked gene: LAMB1 as ready
Prepair 500+ v1.573 LAMB1 Zornitza Stark Gene: lamb1 has been classified as Green List (High Evidence).
Prepair 500+ v1.573 LAMB1 Zornitza Stark Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, 615191 (3) to Lissencephaly 5 MIM#615191
Prepair 500+ v1.572 LAMB1 Zornitza Stark Publications for gene: LAMB1 were set to
Prepair 500+ v1.571 LAMA3 Zornitza Stark Marked gene: LAMA3 as ready
Prepair 500+ v1.571 LAMA3 Zornitza Stark Gene: lama3 has been classified as Green List (High Evidence).
Prepair 500+ v1.571 LAMA3 Zornitza Stark Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) to Epidermolysis bullosa, junctional 2B, severe (MIM#619784); 3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660); Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783)
Prepair 500+ v1.570 LAMA3 Zornitza Stark Publications for gene: LAMA3 were set to
Prepair 500+ v1.569 GPR143 Seb Lunke Classified gene: GPR143 as Red List (low evidence)
Prepair 500+ v1.569 GPR143 Seb Lunke Added comment: Comment on list classification: Marked red in line with LD comment
Prepair 500+ v1.569 GPR143 Seb Lunke Gene: gpr143 has been classified as Red List (Low Evidence).
Prepair 500+ v1.568 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Prepair 500+ v1.568 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Prepair 500+ v1.568 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital merosin-deficient, 607855 (3) to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Prepair 500+ v1.567 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Prepair 500+ v1.566 L2HGDH Zornitza Stark Marked gene: L2HGDH as ready
Prepair 500+ v1.566 L2HGDH Zornitza Stark Gene: l2hgdh has been classified as Green List (High Evidence).
Prepair 500+ v1.566 L2HGDH Zornitza Stark Phenotypes for gene: L2HGDH were changed from L-2-hydroxyglutaric aciduria, 236792 (3) to L-2-hydroxyglutaric aciduria, MIM#236792
Prepair 500+ v1.565 L2HGDH Zornitza Stark Publications for gene: L2HGDH were set to
Prepair 500+ v1.564 L1CAM Zornitza Stark Marked gene: L1CAM as ready
Prepair 500+ v1.564 L1CAM Zornitza Stark Gene: l1cam has been classified as Green List (High Evidence).
Prepair 500+ v1.564 L1CAM Zornitza Stark Phenotypes for gene: L1CAM were changed from MASA syndrome, 303350 (3) to MASA syndrome, MIM#303350; Hydrocephalus, congenital, X-linked, MIM#307000
Prepair 500+ v1.563 L1CAM Zornitza Stark Publications for gene: L1CAM were set to
Prepair 500+ v1.562 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Prepair 500+ v1.562 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Prepair 500+ v1.562 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, recessive 1, 601001 (3) to Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001; MONDO:0010976
Prepair 500+ v1.561 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Prepair 500+ v1.560 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Prepair 500+ v1.560 KIF7 Zornitza Stark Gene: kif7 has been classified as Green List (High Evidence).
Prepair 500+ v1.560 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from Hydrolethalus syndrome 2, 614120 (3) to Al-Gazali-Bakalinova syndrome MIM#607131; Hydrolethalus syndrome 2 MIM#614120; Acrocallosal syndrome MIM#200990; Joubert syndrome 12 MIM#200990
Prepair 500+ v1.559 KIF7 Zornitza Stark Publications for gene: KIF7 were set to
Prepair 500+ v1.558 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Prepair 500+ v1.558 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Prepair 500+ v1.558 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357 (3) to Spastic paraplegia 30, autosomal recessive, MIM#610357
Prepair 500+ v1.557 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
Prepair 500+ v1.556 KDM5C Zornitza Stark Marked gene: KDM5C as ready
Prepair 500+ v1.556 KDM5C Zornitza Stark Gene: kdm5c has been classified as Green List (High Evidence).
Prepair 500+ v1.556 KDM5C Zornitza Stark Phenotypes for gene: KDM5C were changed from Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type; MIM#300534
Prepair 500+ v1.555 KDM5C Zornitza Stark Publications for gene: KDM5C were set to
Prepair 500+ v1.554 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Prepair 500+ v1.554 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Prepair 500+ v1.554 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from Jervell and Lange-Nielsen syndrome, 220400 (3) to Jervell and Lange-Nielsen syndrome MIM#220400
Prepair 500+ v1.553 KCNQ1 Zornitza Stark Publications for gene: KCNQ1 were set to 29033053; 28438721
Prepair 500+ v1.552 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Prepair 500+ v1.552 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence).
Prepair 500+ v1.552 KCNJ11 Zornitza Stark Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3) to Hyperinsulinemic hypoglycemia, familial, 2, MIM#601820
Prepair 500+ v1.551 KCNJ11 Zornitza Stark Publications for gene: KCNJ11 were set to
Prepair 500+ v1.550 KCNJ1 Zornitza Stark Marked gene: KCNJ1 as ready
Prepair 500+ v1.550 KCNJ1 Zornitza Stark Gene: kcnj1 has been classified as Green List (High Evidence).
Prepair 500+ v1.550 KCNJ1 Zornitza Stark Phenotypes for gene: KCNJ1 were changed from Bartter syndrome, type 2, 241200 (3) to Bartter syndrome, type 2, MIM#241200
Prepair 500+ v1.549 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Prepair 500+ v1.549 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Prepair 500+ v1.549 KATNB1 Zornitza Stark Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly, 616212 (3) to Lissencephaly 6, with microcephaly, MIM#616212
Prepair 500+ v1.548 KATNB1 Zornitza Stark Publications for gene: KATNB1 were set to
Prepair 500+ v1.547 JAK3 Zornitza Stark Marked gene: JAK3 as ready
Prepair 500+ v1.547 JAK3 Zornitza Stark Gene: jak3 has been classified as Green List (High Evidence).
Prepair 500+ v1.547 JAK3 Zornitza Stark Phenotypes for gene: JAK3 were changed from SCID, autosomal recessive, T-negative/B-positive type, 600802 (3) to Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type MIM#600802
Prepair 500+ v1.546 JAK3 Zornitza Stark Publications for gene: JAK3 were set to
Prepair 500+ v1.545 IVD Zornitza Stark Marked gene: IVD as ready
Prepair 500+ v1.545 IVD Zornitza Stark Gene: ivd has been classified as Green List (High Evidence).
Prepair 500+ v1.545 IVD Zornitza Stark Phenotypes for gene: IVD were changed from Isovaleric acidemia, 243500 (3) to Isovaleric acidemia, MIM #243500
Prepair 500+ v1.544 IVD Zornitza Stark Publications for gene: IVD were set to
Prepair 500+ v1.543 ITPR1 Zornitza Stark Marked gene: ITPR1 as ready
Prepair 500+ v1.543 ITPR1 Zornitza Stark Gene: itpr1 has been classified as Green List (High Evidence).
Prepair 500+ v1.543 ITPR1 Zornitza Stark Phenotypes for gene: ITPR1 were changed from Gillespie syndrome, 206700 (3), Autosomal recessive to Gillespie syndrome, MIM# 206700
Prepair 500+ v1.542 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to
Prepair 500+ v1.541 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Prepair 500+ v1.541 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Green List (High Evidence).
Prepair 500+ v1.541 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) to Epidermolysis bullosa, junctional 5B, with pyloric atresia, MIM#226730
Prepair 500+ v1.540 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to
Prepair 500+ v1.539 ITGA6 Zornitza Stark Marked gene: ITGA6 as ready
Prepair 500+ v1.539 ITGA6 Zornitza Stark Gene: itga6 has been classified as Green List (High Evidence).
Prepair 500+ v1.539 ITGA6 Zornitza Stark Phenotypes for gene: ITGA6 were changed from Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) to Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817)
Prepair 500+ v1.538 IQSEC2 Zornitza Stark Marked gene: IQSEC2 as ready
Prepair 500+ v1.538 IQSEC2 Zornitza Stark Gene: iqsec2 has been classified as Green List (High Evidence).
Prepair 500+ v1.538 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to
Prepair 500+ v1.537 INVS Zornitza Stark Marked gene: INVS as ready
Prepair 500+ v1.537 INVS Zornitza Stark Gene: invs has been classified as Green List (High Evidence).
Prepair 500+ v1.537 INVS Zornitza Stark Phenotypes for gene: INVS were changed from Nephronophthisis 2, infantile, 602088 (3) to Nephronophthisis 2, infantile, (MIM#602088)
Prepair 500+ v1.536 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Prepair 500+ v1.536 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Prepair 500+ v1.536 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from Joubert syndrome 1, 213300 (3) to Joubert syndrome 1, MIM# 213300; MONDO:0008944
Prepair 500+ v1.535 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Prepair 500+ v1.534 IL7R Zornitza Stark Marked gene: IL7R as ready
Prepair 500+ v1.534 IL7R Zornitza Stark Gene: il7r has been classified as Green List (High Evidence).
Prepair 500+ v1.534 IL2RG Zornitza Stark Marked gene: IL2RG as ready
Prepair 500+ v1.534 IL2RG Zornitza Stark Gene: il2rg has been classified as Green List (High Evidence).
Prepair 500+ v1.534 IL2RG Zornitza Stark Phenotypes for gene: IL2RG were changed from Severe combined immunodeficiency, X-linked, 300400 (3) to Severe combined immunodeficiency, X-linked, MIM#300400
Prepair 500+ v1.533 IL1RAPL1 Zornitza Stark Marked gene: IL1RAPL1 as ready
Prepair 500+ v1.533 IL1RAPL1 Zornitza Stark Gene: il1rapl1 has been classified as Green List (High Evidence).
Prepair 500+ v1.533 IL1RAPL1 Zornitza Stark Phenotypes for gene: IL1RAPL1 were changed from Mental retardation, X-linked 21/34, 300143 (3) to Intellectual developmental disorder, X-linked 21, MIM#300143
Prepair 500+ v1.532 IL1RAPL1 Zornitza Stark Publications for gene: IL1RAPL1 were set to
Prepair 500+ v1.531 IKBKB Zornitza Stark Marked gene: IKBKB as ready
Prepair 500+ v1.531 IKBKB Zornitza Stark Gene: ikbkb has been classified as Green List (High Evidence).
Prepair 500+ v1.531 IKBKB Zornitza Stark Phenotypes for gene: IKBKB were changed from Immunodeficiency 15, 615592 (3) to Immunodeficiency 15, MIM#615592
Prepair 500+ v1.530 IKBKB Zornitza Stark Publications for gene: IKBKB were set to
Prepair 500+ v1.529 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Prepair 500+ v1.529 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Prepair 500+ v1.529 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI, 604320 (3) to Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320; Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155
Prepair 500+ v1.528 IGHMBP2 Zornitza Stark Publications for gene: IGHMBP2 were set to
Prepair 500+ v1.527 IDUA Zornitza Stark Marked gene: IDUA as ready
Prepair 500+ v1.527 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Prepair 500+ v1.527 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih, 607014 (3) to Mucopolysaccharidosis Ih, MIM#607014
Prepair 500+ v1.526 IDS Zornitza Stark Marked gene: IDS as ready
Prepair 500+ v1.526 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
Prepair 500+ v1.526 IDS Zornitza Stark Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II, 309900 (3) to Mucopolysaccharidosis II, MIM# 309900; Hunter syndrome, MONDO:0010674
Prepair 500+ v1.525 IDS Zornitza Stark Publications for gene: IDS were set to
Prepair 500+ v1.524 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Prepair 500+ v1.524 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Green List (High Evidence).
Prepair 500+ v1.524 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from Hydrolethalus syndrome, 236680 (3) to Hydrolethalus syndrome (MIM#236680); Ciliopathy
Prepair 500+ v1.523 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Prepair 500+ v1.522 HUWE1 Zornitza Stark Marked gene: HUWE1 as ready
Prepair 500+ v1.522 HUWE1 Zornitza Stark Gene: huwe1 has been classified as Green List (High Evidence).
Prepair 500+ v1.522 HUWE1 Zornitza Stark Phenotypes for gene: HUWE1 were changed from Mental retardation, X-linked syndromic, Turner type, 300706 (3) to Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590
Prepair 500+ v1.521 HUWE1 Zornitza Stark Publications for gene: HUWE1 were set to
Prepair 500+ v1.520 HSD3B2 Zornitza Stark Marked gene: HSD3B2 as ready
Prepair 500+ v1.520 HSD3B2 Zornitza Stark Gene: hsd3b2 has been classified as Green List (High Evidence).
Prepair 500+ v1.520 HSD3B2 Zornitza Stark Phenotypes for gene: HSD3B2 were changed from 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3) to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810
Prepair 500+ v1.519 HSD3B2 Zornitza Stark Publications for gene: HSD3B2 were set to
Prepair 500+ v1.518 HSD17B4 Zornitza Stark Marked gene: HSD17B4 as ready
Prepair 500+ v1.518 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence).
Prepair 500+ v1.518 HSD17B4 Zornitza Stark Phenotypes for gene: HSD17B4 were changed from D-bifunctional protein deficiency, 261515 (3) to D-bifunctional protein deficiency, MIM#261515
Prepair 500+ v1.517 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Prepair 500+ v1.517 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Prepair 500+ v1.517 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease to HSD10 mitochondrial disease, MIM#300438
Prepair 500+ v1.516 HSD17B10 Zornitza Stark Publications for gene: HSD17B10 were set to
Prepair 500+ v1.515 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Prepair 500+ v1.515 HPS6 Zornitza Stark Gene: hps6 has been classified as Green List (High Evidence).
Prepair 500+ v1.515 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from Hermansky-Pudlak syndrome 6, 614075 (3) to Hermansky-Pudlak syndrome 6, MIM# 614075
Prepair 500+ v1.514 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Prepair 500+ v1.513 HPS5 Zornitza Stark Marked gene: HPS5 as ready
Prepair 500+ v1.513 HPS5 Zornitza Stark Gene: hps5 has been classified as Green List (High Evidence).
Prepair 500+ v1.513 HPS5 Zornitza Stark Phenotypes for gene: HPS5 were changed from Hermansky-Pudlak syndrome 5, 614074 (3) to Hermansky-Pudlak syndrome 5 MIM#614074
Prepair 500+ v1.512 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Prepair 500+ v1.512 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Prepair 500+ v1.512 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4, 614073 (3) to Hermansky-Pudlak syndrome 4, MIM #614073
Prepair 500+ v1.511 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Prepair 500+ v1.510 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Prepair 500+ v1.510 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Prepair 500+ v1.510 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from Hermansky-Pudlak syndrome 3, 614072 (3) to Hermansky-Pudlak syndrome 3 MIM#614072
Prepair 500+ v1.509 HPS3 Zornitza Stark Publications for gene: HPS3 were set to
Prepair 500+ v1.508 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Prepair 500+ v1.508 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Prepair 500+ v1.508 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak syndrome 1, 203300 (3) to Hermansky-Pudlak syndrome 1, MIM#203300
Prepair 500+ v1.507 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Prepair 500+ v1.506 HPRT1 Zornitza Stark Marked gene: HPRT1 as ready
Prepair 500+ v1.506 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Green List (High Evidence).
Prepair 500+ v1.506 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome, 300322 (3) to Lesch-Nyhan syndrome (MIM#300322)
Prepair 500+ v1.505 HPRT1 Zornitza Stark Publications for gene: HPRT1 were set to
Prepair 500+ v1.504 HPD Zornitza Stark Marked gene: HPD as ready
Prepair 500+ v1.504 HPD Zornitza Stark Gene: hpd has been classified as Green List (High Evidence).
Prepair 500+ v1.504 HPD Zornitza Stark Phenotypes for gene: HPD were changed from Tyrosinemia, type III, 276710 (3) to Tyrosinaemia, type III, MIM#276710
Prepair 500+ v1.503 HPD Zornitza Stark Publications for gene: HPD were set to
Prepair 500+ v1.502 HMGCS2 Zornitza Stark Marked gene: HMGCS2 as ready
Prepair 500+ v1.502 HMGCS2 Zornitza Stark Gene: hmgcs2 has been classified as Green List (High Evidence).
Prepair 500+ v1.502 HMGCS2 Zornitza Stark Phenotypes for gene: HMGCS2 were changed from HMG-CoA synthase-2 deficiency, 605911 (3) to HMG-CoA synthase-2 deficiency, MIM#605911
Prepair 500+ v1.501 HMGCS2 Zornitza Stark Publications for gene: HMGCS2 were set to
Prepair 500+ v1.500 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Prepair 500+ v1.500 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Prepair 500+ v1.500 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from HMG-CoA lyase deficiency, 246450 (3) to HMG-CoA lyase deficiency, MIM# 246450
Prepair 500+ v1.499 HLCS Zornitza Stark Marked gene: HLCS as ready
Prepair 500+ v1.499 HLCS Zornitza Stark Gene: hlcs has been classified as Green List (High Evidence).
Prepair 500+ v1.499 HLCS Zornitza Stark Phenotypes for gene: HLCS were changed from Holocarboxylase synthetase deficiency, 253270 (3) to Holocarboxylase synthetase deficiency MIM#253270
Prepair 500+ v1.498 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Prepair 500+ v1.498 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Prepair 500+ v1.498 HIBCH Zornitza Stark Phenotypes for gene: HIBCH were changed from 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620
Prepair 500+ v1.497 HIBCH Zornitza Stark Publications for gene: HIBCH were set to
Prepair 500+ v1.496 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Prepair 500+ v1.496 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Green List (High Evidence).
Prepair 500+ v1.496 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3) to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930; Retinitis pigmentosa 73, MIM#616544
Prepair 500+ v1.495 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to
Prepair 500+ v1.494 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Prepair 500+ v1.494 HFE2 Zornitza Stark Gene: hfe2 has been classified as Green List (High Evidence).
Prepair 500+ v1.494 HFE2 Zornitza Stark Phenotypes for gene: HFE2 were changed from Hemochromatosis, type 2A, 602390 (3) to Haemochromatosis, type 2A, MIM#602390
Prepair 500+ v1.493 HEXB Zornitza Stark Marked gene: HEXB as ready
Prepair 500+ v1.493 HEXB Zornitza Stark Gene: hexb has been classified as Green List (High Evidence).
Prepair 500+ v1.493 HEXB Zornitza Stark Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) to Sandhoff disease, infantile, juvenile, and adult forms, MIM#268800
Prepair 500+ v1.492 HEXB Zornitza Stark Publications for gene: HEXB were set to
Prepair 500+ v1.491 HEXA Zornitza Stark Marked gene: HEXA as ready
Prepair 500+ v1.491 HEXA Zornitza Stark Gene: hexa has been classified as Green List (High Evidence).
Prepair 500+ v1.491 HEXA Zornitza Stark Phenotypes for gene: HEXA were changed from Tay-Sachs disease, 272800 (3) to Tay-Sachs disease, MIM#272800
Prepair 500+ v1.490 HEXA Zornitza Stark Publications for gene: HEXA were set to
Prepair 500+ v1.489 HCFC1 Zornitza Stark Marked gene: HCFC1 as ready
Prepair 500+ v1.489 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Green List (High Evidence).
Prepair 500+ v1.489 HCFC1 Zornitza Stark Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3) to Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541
Prepair 500+ v1.488 HCFC1 Zornitza Stark Publications for gene: HCFC1 were set to
Prepair 500+ v1.487 HBB Zornitza Stark Marked gene: HBB as ready
Prepair 500+ v1.487 HBB Zornitza Stark Gene: hbb has been classified as Green List (High Evidence).
Prepair 500+ v1.487 HBB Zornitza Stark Phenotypes for gene: HBB were changed from Thalassemias, beta-, 613985 (3) to Sickle cell anaemia, MIM# 603903
Prepair 500+ v1.486 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Prepair 500+ v1.486 HAX1 Zornitza Stark Gene: hax1 has been classified as Green List (High Evidence).
Prepair 500+ v1.486 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, 610738 (3) to Neutropenia, severe congenital 3, autosomal recessive, MIM#610738
Prepair 500+ v1.485 HAX1 Zornitza Stark Publications for gene: HAX1 were set to
Prepair 500+ v1.484 HAMP Zornitza Stark Marked gene: HAMP as ready
Prepair 500+ v1.484 HAMP Zornitza Stark Gene: hamp has been classified as Green List (High Evidence).
Prepair 500+ v1.484 HAMP Zornitza Stark Phenotypes for gene: HAMP were changed from Hemochromatosis, type 2B, 613313 (3) to Haemochromatosis, type 2B MIM#613313
Prepair 500+ v1.483 HAMP Zornitza Stark Publications for gene: HAMP were set to
Prepair 500+ v1.482 HADHB Zornitza Stark Marked gene: HADHB as ready
Prepair 500+ v1.482 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Prepair 500+ v1.482 HADHB Zornitza Stark Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 (3) to Mitochondrial trifunctional protein deficiency 2 MIM#620300
Prepair 500+ v1.481 HADHA Zornitza Stark Marked gene: HADHA as ready
Prepair 500+ v1.481 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Prepair 500+ v1.481 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from Fatty liver, acute, of pregnancy, 609016 (3) to LCHAD deficiency MIM#609016; Mitochondrial trifunctional protein deficiency 1 MIM#609015
Prepair 500+ v1.480 HADH Zornitza Stark Marked gene: HADH as ready
Prepair 500+ v1.480 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
Prepair 500+ v1.480 HADH Zornitza Stark Phenotypes for gene: HADH were changed from 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) to 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
Prepair 500+ v1.479 HADH Zornitza Stark Publications for gene: HADH were set to
Prepair 500+ v1.478 GUSB Zornitza Stark Marked gene: GUSB as ready
Prepair 500+ v1.478 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Prepair 500+ v1.478 GUSB Zornitza Stark Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII, 253220 (3) to Mucopolysaccharidosis VII, MIM# 253220
Prepair 500+ v1.477 GUSB Zornitza Stark Publications for gene: GUSB were set to
Prepair 500+ v1.476 GUCY2D Zornitza Stark Marked gene: GUCY2D as ready
Prepair 500+ v1.476 GUCY2D Zornitza Stark Gene: gucy2d has been classified as Green List (High Evidence).
Prepair 500+ v1.476 GUCY2D Zornitza Stark Phenotypes for gene: GUCY2D were changed from Leber congenital amaurosis 1, 204000 (3) to Leber congenital amaurosis 1, MIM #204000
Prepair 500+ v1.475 GUCY2D Zornitza Stark Publications for gene: GUCY2D were set to
Prepair 500+ v1.474 GSS Zornitza Stark Marked gene: GSS as ready
Prepair 500+ v1.474 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Prepair 500+ v1.474 GSS Zornitza Stark Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency, 266130 (3) to Glutathione synthetase deficiency MIM#266130
Prepair 500+ v1.473 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
Prepair 500+ v1.473 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Green List (High Evidence).
Prepair 500+ v1.473 GPSM2 Zornitza Stark Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome, 604213 (3) to Chudley-McCullough syndrome MIM#604213
Prepair 500+ v1.472 GPSM2 Zornitza Stark Publications for gene: GPSM2 were set to
Prepair 500+ v1.471 GPR143 Zornitza Stark Marked gene: GPR143 as ready
Prepair 500+ v1.471 GPR143 Zornitza Stark Gene: gpr143 has been classified as Green List (High Evidence).
Prepair 500+ v1.471 GPR143 Zornitza Stark Phenotypes for gene: GPR143 were changed from Ocular albinism, type I, Nettleship-Falls type, 300500 (3) to Nystagmus 6, congenital, X-linked, MIM#300814; Ocular albinism, type I, Nettleship-Falls type, MIM#300500
Prepair 500+ v1.470 GPR143 Zornitza Stark Publications for gene: GPR143 were set to
Prepair 500+ v1.469 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Prepair 500+ v1.469 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Prepair 500+ v1.469 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) to Simpson-Golabi-Behmel syndrome, type 1, MIM #312870
Prepair 500+ v1.468 GPC3 Zornitza Stark Publications for gene: GPC3 were set to
Prepair 500+ v1.467 GORAB Zornitza Stark Marked gene: GORAB as ready
Prepair 500+ v1.467 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Prepair 500+ v1.467 GORAB Zornitza Stark Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum, 231070 (3) to Geroderma osteodysplasticum, MIM#231070; MONDO:0009271
Prepair 500+ v1.466 GORAB Zornitza Stark Publications for gene: GORAB were set to
Prepair 500+ v1.465 GNS Zornitza Stark Marked gene: GNS as ready
Prepair 500+ v1.465 GNS Zornitza Stark Gene: gns has been classified as Green List (High Evidence).
Prepair 500+ v1.465 GNS Zornitza Stark Phenotypes for gene: GNS were changed from Mucopolysaccharidosis type IIID, 252940 (3) to Mucopolysaccharidosis type IIID, MIM# 252940; Sanfilippo syndrome type D, MONDO:0009658
Prepair 500+ v1.464 GNS Zornitza Stark Publications for gene: GNS were set to
Prepair 500+ v1.463 GNPTG Zornitza Stark Marked gene: GNPTG as ready
Prepair 500+ v1.463 GNPTG Zornitza Stark Gene: gnptg has been classified as Green List (High Evidence).
Prepair 500+ v1.463 GNPTG Zornitza Stark Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma, 252605 (3) to Mucolipidosis III gamma, MIM# 252605
Prepair 500+ v1.462 GNPTG Zornitza Stark Publications for gene: GNPTG were set to
Prepair 500+ v1.461 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Prepair 500+ v1.461 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Prepair 500+ v1.461 GNPTAB Zornitza Stark Phenotypes for gene: GNPTAB were changed from Mucolipidosis III alpha/beta, 252600 (3) to Mucolipidosis III alpha/beta MIM#252600; Mucolipidosis II alpha/beta MIM#252500
Prepair 500+ v1.460 GNPAT Zornitza Stark Marked gene: GNPAT as ready
Prepair 500+ v1.460 GNPAT Zornitza Stark Gene: gnpat has been classified as Green List (High Evidence).
Prepair 500+ v1.460 GNPAT Zornitza Stark Phenotypes for gene: GNPAT were changed from Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) to Rhizomelic chondrodysplasia punctata, type 2 (MIM# 222765)
Prepair 500+ v1.459 GNPAT Zornitza Stark Publications for gene: GNPAT were set to
Prepair 500+ v1.458 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Prepair 500+ v1.458 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Prepair 500+ v1.458 GNB5 Zornitza Stark Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive to Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Prepair 500+ v1.457 GNB5 Zornitza Stark Publications for gene: GNB5 were set to
Prepair 500+ v1.456 GLE1 Zornitza Stark Marked gene: GLE1 as ready
Prepair 500+ v1.456 GLE1 Zornitza Stark Gene: gle1 has been classified as Green List (High Evidence).
Prepair 500+ v1.456 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) to Congenital arthrogryposis with anterior horn cell disease, MIM #611890; Lethal congenital contracture syndrome 1, MIM #253310
Prepair 500+ v1.455 GLE1 Zornitza Stark Publications for gene: GLE1 were set to
Prepair 500+ v1.454 GLDC Zornitza Stark Marked gene: GLDC as ready
Prepair 500+ v1.454 GLDC Zornitza Stark Gene: gldc has been classified as Green List (High Evidence).
Prepair 500+ v1.454 GLDC Zornitza Stark Phenotypes for gene: GLDC were changed from Glycine encephalopathy, 605899 (3) to Glycine encephalopathy1 (MIM#605899)
Prepair 500+ v1.453 GLDC Zornitza Stark Publications for gene: GLDC were set to
Prepair 500+ v1.452 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Prepair 500+ v1.452 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Prepair 500+ v1.452 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis type IVB (Morquio), 253010 (3) to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM#230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Prepair 500+ v1.451 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Prepair 500+ v1.450 GLA Zornitza Stark Marked gene: GLA as ready
Prepair 500+ v1.450 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Prepair 500+ v1.450 GLA Zornitza Stark Publications for gene: GLA were set to 29649853; 20301469
Prepair 500+ v1.449 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Prepair 500+ v1.449 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Prepair 500+ v1.449 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800) to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Prepair 500+ v1.448 GJB1 Zornitza Stark Publications for gene: GJB1 were set to
Prepair 500+ v1.447 GHR Zornitza Stark Marked gene: GHR as ready
Prepair 500+ v1.447 GHR Zornitza Stark Gene: ghr has been classified as Green List (High Evidence).
Prepair 500+ v1.447 GHR Zornitza Stark Phenotypes for gene: GHR were changed from Laron dwarfism, 262500 (3) to Laron dwarfism, MIM#262500
Prepair 500+ v1.446 GHR Zornitza Stark Publications for gene: GHR were set to
Prepair 500+ v1.445 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Prepair 500+ v1.445 GFM1 Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence).
Prepair 500+ v1.445 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from Combined oxidative phosphorylation deficiency 1, 609060 (3) to Combined oxidative phosphorylation deficiency 1, MIM#609060
Prepair 500+ v1.444 GDF5 Zornitza Stark Marked gene: GDF5 as ready
Prepair 500+ v1.444 GDF5 Zornitza Stark Gene: gdf5 has been classified as Green List (High Evidence).
Prepair 500+ v1.444 GDF5 Zornitza Stark Phenotypes for gene: GDF5 were changed from Chondrodysplasia, Grebe type, 200700 (3) to Acromesomelic dysplasia 2A MIM#200700; Acromesomelic dysplasia 2B MIM#228900
Prepair 500+ v1.443 GDF5 Zornitza Stark Publications for gene: GDF5 were set to
Prepair 500+ v1.442 GDF1 Zornitza Stark Marked gene: GDF1 as ready
Prepair 500+ v1.442 GDF1 Zornitza Stark Gene: gdf1 has been classified as Green List (High Evidence).
Prepair 500+ v1.442 GDF1 Zornitza Stark Phenotypes for gene: GDF1 were changed from Right atrial isomerism, 208530 (3) to Right atrial isomerism (Ivemark), MIM #208530
Prepair 500+ v1.441 GDF1 Zornitza Stark Publications for gene: GDF1 were set to
Prepair 500+ v1.440 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
Prepair 500+ v1.440 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence).
Prepair 500+ v1.440 GDAP1 Zornitza Stark Phenotypes for gene: GDAP1 were changed from Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) to Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM #607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM #608340; Charcot-Marie-Tooth disease, type 4A, MIM#214400
Prepair 500+ v1.439 GDAP1 Zornitza Stark Publications for gene: GDAP1 were set to
Prepair 500+ v1.438 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Prepair 500+ v1.438 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Prepair 500+ v1.438 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3) to Dystonia, DOPA-responsive, with or without hyperphenylalaninaemia, MIM#128230
Prepair 500+ v1.437 GCH1 Zornitza Stark Publications for gene: GCH1 were set to
Prepair 500+ v1.436 GCDH Zornitza Stark Marked gene: GCDH as ready
Prepair 500+ v1.436 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Prepair 500+ v1.436 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from Glutaricaciduria, type I, 231670 (3) to Glutaric aciduria, type I, MIM#231670
Prepair 500+ v1.435 GCDH Zornitza Stark Publications for gene: GCDH were set to
Prepair 500+ v1.434 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Prepair 500+ v1.434 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Prepair 500+ v1.434 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500 (3) to Glycogen storage disease IV, MIM#232500
Prepair 500+ v1.433 GATM Zornitza Stark Marked gene: GATM as ready
Prepair 500+ v1.433 GATM Zornitza Stark Gene: gatm has been classified as Green List (High Evidence).
Prepair 500+ v1.433 GATM Zornitza Stark Phenotypes for gene: GATM were changed from Cerebral creatine deficiency syndrome 3, 612718 (3) to Cerebral creatine deficiency syndrome 3 MIM#612718; AGAT deficiency MONDO:0012996
Prepair 500+ v1.432 GATM Zornitza Stark Publications for gene: GATM were set to
Prepair 500+ v1.431 GAMT Zornitza Stark Marked gene: GAMT as ready
Prepair 500+ v1.431 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Prepair 500+ v1.431 GAMT Zornitza Stark Phenotypes for gene: GAMT were changed from Cerebral creatine deficiency syndrome 2, 612736 (3) to Cerebral creatine deficiency syndrome 2 (MIM#612736)
Prepair 500+ v1.430 GAMT Zornitza Stark Publications for gene: GAMT were set to
Prepair 500+ v1.429 GALT Zornitza Stark Marked gene: GALT as ready
Prepair 500+ v1.429 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Prepair 500+ v1.429 GALT Zornitza Stark Phenotypes for gene: GALT were changed from Galactosemia, 230400 (3) to Galactosaemia MIM# 230400
Prepair 500+ v1.428 GALNS Zornitza Stark Marked gene: GALNS as ready
Prepair 500+ v1.428 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Prepair 500+ v1.428 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA, 253000 (3) to Mucopolysaccharidosis IVA, MIM#253000
Prepair 500+ v1.427 GALNS Zornitza Stark Publications for gene: GALNS were set to
Prepair 500+ v1.426 GALC Zornitza Stark Marked gene: GALC as ready
Prepair 500+ v1.426 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Prepair 500+ v1.426 GALC Zornitza Stark Phenotypes for gene: GALC were changed from Krabbe disease, 245200 (3) to Krabbe disease, MIM# 245200; MONDO:0009499
Prepair 500+ v1.425 GALC Zornitza Stark Publications for gene: GALC were set to
Prepair 500+ v1.424 GAA Zornitza Stark Marked gene: GAA as ready
Prepair 500+ v1.424 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Prepair 500+ v1.424 GAA Zornitza Stark Phenotypes for gene: GAA were changed from Glycogen storage disease II, 232300 (3) to Glycogen storage disease II, MIM#232300
Prepair 500+ v1.423 GAA Zornitza Stark Publications for gene: GAA were set to
Prepair 500+ v1.422 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Prepair 500+ v1.422 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Prepair 500+ v1.422 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from Dursun syndrome, 612541 (3) to Dursun syndrome, MIM# 612541; Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
Prepair 500+ v1.421 G6PC Zornitza Stark Marked gene: G6PC as ready
Prepair 500+ v1.421 G6PC Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence).
Prepair 500+ v1.421 G6PC Zornitza Stark Phenotypes for gene: G6PC were changed from Glycogen storage disease Ia, 232200 (3) to Glycogen storage disease Ia (MIM# 232200)
Prepair 500+ v1.420 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Prepair 500+ v1.420 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
Prepair 500+ v1.420 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from Fucosidosis, 230000 (3) to Fucosidosis, MIM# 230000
Prepair 500+ v1.419 FTSJ1 Zornitza Stark Marked gene: FTSJ1 as ready
Prepair 500+ v1.419 FTSJ1 Zornitza Stark Gene: ftsj1 has been classified as Green List (High Evidence).
Prepair 500+ v1.419 FTSJ1 Zornitza Stark Phenotypes for gene: FTSJ1 were changed from Mental retardation, X-linked 9, 309549 (3) to Intellectual developmental disorder, X-linked 9 MIM#309549
Prepair 500+ v1.418 FTSJ1 Zornitza Stark Publications for gene: FTSJ1 were set to
Prepair 500+ v1.417 FREM2 Zornitza Stark Marked gene: FREM2 as ready
Prepair 500+ v1.417 FREM2 Zornitza Stark Gene: frem2 has been classified as Green List (High Evidence).
Prepair 500+ v1.417 FREM2 Zornitza Stark Phenotypes for gene: FREM2 were changed from Fraser syndrome, 219000 (3) to Fraser syndrome, MIM#219000
Prepair 500+ v1.416 FREM2 Zornitza Stark Publications for gene: FREM2 were set to
Prepair 500+ v1.415 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
Prepair 500+ v1.415 FRAS1 Zornitza Stark Gene: fras1 has been classified as Green List (High Evidence).
Prepair 500+ v1.415 FRAS1 Zornitza Stark Phenotypes for gene: FRAS1 were changed from Fraser syndrome, 219000 (3) to Fraser syndrome 1 MIM#219000
Prepair 500+ v1.414 FRAS1 Zornitza Stark Publications for gene: FRAS1 were set to
Prepair 500+ v1.413 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Prepair 500+ v1.413 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Prepair 500+ v1.413 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241
Prepair 500+ v1.412 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Prepair 500+ v1.411 FOXN1 Zornitza Stark Marked gene: FOXN1 as ready
Prepair 500+ v1.411 FOXN1 Zornitza Stark Gene: foxn1 has been classified as Green List (High Evidence).
Prepair 500+ v1.411 FOXN1 Zornitza Stark Phenotypes for gene: FOXN1 were changed from T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) to T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705
Prepair 500+ v1.410 FOXN1 Zornitza Stark Publications for gene: FOXN1 were set to
Prepair 500+ v1.409 FMR1 Zornitza Stark Marked gene: FMR1 as ready
Prepair 500+ v1.409 FMR1 Zornitza Stark Gene: fmr1 has been classified as Green List (High Evidence).
Prepair 500+ v1.409 FMR1 Zornitza Stark Phenotypes for gene: FMR1 were changed from Fragile X syndrome to Fragile X syndrome, MIM #300624
Prepair 500+ v1.408 FMR1 Zornitza Stark Publications for gene: FMR1 were set to
Prepair 500+ v1.407 FLNA Zornitza Stark Marked gene: FLNA as ready
Prepair 500+ v1.407 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Prepair 500+ v1.407 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from FG syndrome 2, 300321 (3) to Frontometaphyseal dysplasia 1, MIM#305620; Heterotopia, periventricular, 1, MIM#300049; Intestinal pseudoobstruction, neuronal, MIM#300048; Melnick-Needles syndrome, MIM#309350; Otopalatodigital syndrome, type I, MIM#311300; Otopalatodigital syndrome, type II, MIM#304120; Terminal osseous dysplasia, MIM#300244
Prepair 500+ v1.406 FLNA Zornitza Stark Publications for gene: FLNA were set to
Prepair 500+ v1.405 FKTN Zornitza Stark Marked gene: FKTN as ready
Prepair 500+ v1.405 FKTN Zornitza Stark Gene: fktn has been classified as Green List (High Evidence).
Prepair 500+ v1.405 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) to Muscular dystrophy-dystroglycanopathy MONDO:0018276
Prepair 500+ v1.404 FKTN Zornitza Stark Publications for gene: FKTN were set to
Prepair 500+ v1.403 FKRP Zornitza Stark Marked gene: FKRP as ready
Prepair 500+ v1.403 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Prepair 500+ v1.403 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MIM#613153); Muscular dystrophy-dystroglycanopathy (congenital with or without intellectual development), type B, 5 (MIM#606612); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MIM#607155)
Prepair 500+ v1.402 FKRP Zornitza Stark Publications for gene: FKRP were set to
Prepair 500+ v1.401 FKBP10 Zornitza Stark Marked gene: FKBP10 as ready
Prepair 500+ v1.401 FKBP10 Zornitza Stark Gene: fkbp10 has been classified as Green List (High Evidence).
Prepair 500+ v1.401 FKBP10 Zornitza Stark Phenotypes for gene: FKBP10 were changed from Bruck syndrome 1, 259450 (3) to Bruck syndrome 1, MIM#259450; osteogenesis imperfecta, type XI, MIM#610968
Prepair 500+ v1.400 FKBP10 Zornitza Stark Publications for gene: FKBP10 were set to
Prepair 500+ v1.399 FHL1 Zornitza Stark Marked gene: FHL1 as ready
Prepair 500+ v1.399 FHL1 Zornitza Stark Gene: fhl1 has been classified as Green List (High Evidence).
Prepair 500+ v1.399 FHL1 Zornitza Stark Phenotypes for gene: FHL1 were changed from Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) to Reducing body myopathy MONDO:0019948; X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680
Prepair 500+ v1.398 FHL1 Zornitza Stark Publications for gene: FHL1 were set to
Prepair 500+ v1.397 FH Zornitza Stark Marked gene: FH as ready
Prepair 500+ v1.397 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Prepair 500+ v1.397 FH Zornitza Stark Phenotypes for gene: FH were changed from Fumarase deficiency, 606812 (3) to Fumarase deficiency, MIM# 606812
Prepair 500+ v1.396 FH Zornitza Stark Publications for gene: FH were set to
Prepair 500+ v1.395 FBXO7 Zornitza Stark Marked gene: FBXO7 as ready
Prepair 500+ v1.395 FBXO7 Zornitza Stark Gene: fbxo7 has been classified as Green List (High Evidence).
Prepair 500+ v1.395 FBXO7 Zornitza Stark Phenotypes for gene: FBXO7 were changed from Parkinson disease 15, autosomal recessive, 260300 (3) to Parkinson disease 15, autosomal recessive, MIM#260300
Prepair 500+ v1.394 FBXO7 Zornitza Stark Publications for gene: FBXO7 were set to
Prepair 500+ v1.393 FBP1 Zornitza Stark Marked gene: FBP1 as ready
Prepair 500+ v1.393 FBP1 Zornitza Stark Gene: fbp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.393 FBP1 Zornitza Stark Phenotypes for gene: FBP1 were changed from Fructose-1,6-bisphosphatase deficiency, 229700 (3) to Fructose-1,6-bisphosphatase deficiency, MIM#229700
Prepair 500+ v1.392 FAT4 Zornitza Stark Marked gene: FAT4 as ready
Prepair 500+ v1.392 FAT4 Zornitza Stark Gene: fat4 has been classified as Green List (High Evidence).
Prepair 500+ v1.392 FAT4 Zornitza Stark Phenotypes for gene: FAT4 were changed from Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3) to Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546
Prepair 500+ v1.391 FAT4 Zornitza Stark Publications for gene: FAT4 were set to
Prepair 500+ v1.390 FANCL Zornitza Stark Marked gene: FANCL as ready
Prepair 500+ v1.390 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Prepair 500+ v1.390 FANCL Zornitza Stark Phenotypes for gene: FANCL were changed from Fanconi anemia, complementation group L, 614083 (3) to Fanconi anaemia, complementation group L MIM#614083
Prepair 500+ v1.389 FANCL Zornitza Stark Publications for gene: FANCL were set to
Prepair 500+ v1.388 FANCI Zornitza Stark Marked gene: FANCI as ready
Prepair 500+ v1.388 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Prepair 500+ v1.388 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from Fanconi anemia, complementation group I, 609053 (3) to Fanconi anaemia, complementation group I, MIM#609053
Prepair 500+ v1.387 FANCI Zornitza Stark Publications for gene: FANCI were set to
Prepair 500+ v1.386 FANCG Zornitza Stark Marked gene: FANCG as ready
Prepair 500+ v1.386 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Prepair 500+ v1.386 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from Fanconi anemia, complementation group G, 614082 (3) to Fanconi anaemia, complementation group G, MIM#614082
Prepair 500+ v1.385 FANCG Zornitza Stark Publications for gene: FANCG were set to
Prepair 500+ v1.384 FANCF Zornitza Stark Marked gene: FANCF as ready
Prepair 500+ v1.384 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Prepair 500+ v1.384 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from Fanconi anemia, complementation group F, 603467 (3) to Fanconi anaemia, complementation group F, MIM#603467
Prepair 500+ v1.383 FANCF Zornitza Stark Publications for gene: FANCF were set to
Prepair 500+ v1.382 FANCE Zornitza Stark Marked gene: FANCE as ready
Prepair 500+ v1.382 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Prepair 500+ v1.382 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from Fanconi anemia, complementation group E, 600901 (3) to Fanconi anaemia, complementation group E, MIM#600901
Prepair 500+ v1.381 FANCE Zornitza Stark Publications for gene: FANCE were set to
Prepair 500+ v1.380 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Prepair 500+ v1.380 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Prepair 500+ v1.380 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anemia, complementation group D2, 227646 (3) to Fanconi anaemia, complementation group D2, MIM#227646
Prepair 500+ v1.379 FANCD2 Zornitza Stark Publications for gene: FANCD2 were set to
Prepair 500+ v1.378 FANCC Zornitza Stark Marked gene: FANCC as ready
Prepair 500+ v1.378 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Prepair 500+ v1.378 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from Fanconi anemia, complementation group C, 227645 (3) to Fanconi anaemia, complementation group C, MIM#227645
Prepair 500+ v1.377 FANCC Zornitza Stark Publications for gene: FANCC were set to
Prepair 500+ v1.376 FANCB Zornitza Stark Marked gene: FANCB as ready
Prepair 500+ v1.376 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Prepair 500+ v1.376 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from Fanconi anemia, complementation group B, 300514 (3) to Fanconi anaemia, complementation group B, MIM#300514
Prepair 500+ v1.375 FANCA Zornitza Stark Marked gene: FANCA as ready
Prepair 500+ v1.375 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Prepair 500+ v1.375 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from Fanconi anemia, complementation group A, 227650 (3) to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Prepair 500+ v1.374 FAM126A Zornitza Stark Marked gene: FAM126A as ready
Prepair 500+ v1.374 FAM126A Zornitza Stark Gene: fam126a has been classified as Green List (High Evidence).
Prepair 500+ v1.374 FAM126A Zornitza Stark Phenotypes for gene: FAM126A were changed from Leukodystrophy, hypomyelinating, 5, 610532 (3) to Leukodystrophy, hypomyelinating, 5 MIM#610532
Prepair 500+ v1.373 FAM126A Zornitza Stark Publications for gene: FAM126A were set to
Prepair 500+ v1.372 FAH Zornitza Stark Marked gene: FAH as ready
Prepair 500+ v1.372 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Prepair 500+ v1.372 FAH Zornitza Stark Phenotypes for gene: FAH were changed from Tyrosinemia, type I, 276700 (3) to Tyrosinaemia, type I, MIM# 276700
Prepair 500+ v1.371 FAH Zornitza Stark Publications for gene: FAH were set to
Prepair 500+ v1.370 F2 Zornitza Stark Marked gene: F2 as ready
Prepair 500+ v1.370 F2 Zornitza Stark Gene: f2 has been classified as Green List (High Evidence).
Prepair 500+ v1.370 F2 Zornitza Stark Phenotypes for gene: F2 were changed from Hypoprothrombinaemia (MIM#613679); Dysprothrombinaemia, 613679 to Hypoprothrombinaemia (MIM#613679)
Prepair 500+ v1.369 F2 Zornitza Stark Publications for gene: F2 were set to
Prepair 500+ v1.368 EXOSC8 Zornitza Stark Marked gene: EXOSC8 as ready
Prepair 500+ v1.368 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence).
Prepair 500+ v1.368 EXOSC8 Zornitza Stark Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, 616081 (3) to Pontocerebellar hypoplasia, type 1C, MIM#616081
Prepair 500+ v1.367 EXOSC8 Zornitza Stark Publications for gene: EXOSC8 were set to
Prepair 500+ v1.366 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Prepair 500+ v1.366 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence).
Prepair 500+ v1.366 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B, 614678 (3) to Pontocerebellar hypoplasia, type 1B, MIM# 614678
Prepair 500+ v1.365 EXOSC3 Zornitza Stark Publications for gene: EXOSC3 were set to
Prepair 500+ v1.364 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Prepair 500+ v1.364 EVC2 Zornitza Stark Gene: evc2 has been classified as Green List (High Evidence).
Prepair 500+ v1.364 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from Ellis-van Creveld syndrome, 225500 (3) to Ellis-van Creveld syndrome MIM#225500
Prepair 500+ v1.363 EVC2 Zornitza Stark Publications for gene: EVC2 were set to
Prepair 500+ v1.362 EVC Zornitza Stark Marked gene: EVC as ready
Prepair 500+ v1.362 EVC Zornitza Stark Gene: evc has been classified as Green List (High Evidence).
Prepair 500+ v1.362 EVC Zornitza Stark Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome, 225500 (3) to Ellis-van Creveld syndrome, MIM# 225500
Prepair 500+ v1.361 EVC Zornitza Stark Publications for gene: EVC were set to
Prepair 500+ v1.360 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Prepair 500+ v1.360 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Prepair 500+ v1.360 ETHE1 Zornitza Stark Phenotypes for gene: ETHE1 were changed from Ethylmalonic encephalopathy, 602473 (3) to Ethylmalonic encephalopathy, MIM#602473
Prepair 500+ v1.359 ETHE1 Zornitza Stark Publications for gene: ETHE1 were set to
Prepair 500+ v1.358 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Prepair 500+ v1.358 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Prepair 500+ v1.358 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from Glutaric acidemia IIC, 231680 (3) to Glutaric acidemia IIC, MIM# 231680
Prepair 500+ v1.357 ETFDH Zornitza Stark Publications for gene: ETFDH were set to
Prepair 500+ v1.356 ETFB Zornitza Stark Marked gene: ETFB as ready
Prepair 500+ v1.356 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Prepair 500+ v1.356 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB, 231680 (3) to Glutaric acidemia IIB, MIM# 231680
Prepair 500+ v1.355 ETFB Zornitza Stark Publications for gene: ETFB were set to
Prepair 500+ v1.354 ETFA Zornitza Stark Marked gene: ETFA as ready
Prepair 500+ v1.354 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Prepair 500+ v1.354 ETFA Zornitza Stark Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA, 231680 (3) to Glutaric acidemia IIA, MIM# 231680
Prepair 500+ v1.353 ETFA Zornitza Stark Publications for gene: ETFA were set to
Prepair 500+ v1.352 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Prepair 500+ v1.352 ESCO2 Zornitza Stark Gene: esco2 has been classified as Green List (High Evidence).
Prepair 500+ v1.352 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from SC phocomelia syndrome, 269000 (3) to Roberts-SC phocomelia syndrome (MIM#268300)
Prepair 500+ v1.351 ESCO2 Zornitza Stark Publications for gene: ESCO2 were set to
Prepair 500+ v1.350 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Prepair 500+ v1.350 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Prepair 500+ v1.350 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from Cockayne syndrome, type A, 216400 (3) to Cockayne syndrome, type A, MIM#216400
Prepair 500+ v1.349 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Prepair 500+ v1.349 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Prepair 500+ v1.349 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, type B, 133540 (3) to Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506
Prepair 500+ v1.348 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Prepair 500+ v1.347 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Prepair 500+ v1.347 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Prepair 500+ v1.347 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum, group G, 278780 (3) to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Prepair 500+ v1.346 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to
Prepair 500+ v1.345 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Prepair 500+ v1.345 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Prepair 500+ v1.345 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from Fanconi anemia, complementation group Q, 615272 (3) to Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215; XFE progeroid syndrome, MIM# 610965 MONDO:0012590
Prepair 500+ v1.344 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Prepair 500+ v1.344 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Prepair 500+ v1.344 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from Cerebrooculofacioskeletal syndrome 2, 610756 (3) to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; Trichothiodystrophy 1, photosensitive, MIM# 601675; Xeroderma pigmentosum, group D, MIM# 278730
Prepair 500+ v1.343 ERCC2 Zornitza Stark Publications for gene: ERCC2 were set to
Prepair 500+ v1.342 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Prepair 500+ v1.342 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Prepair 500+ v1.342 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from Vici syndrome, 242840 (3) to Vici syndrome MIM# 242840
Prepair 500+ v1.341 EPG5 Zornitza Stark Publications for gene: EPG5 were set to
Prepair 500+ v1.340 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Prepair 500+ v1.340 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.340 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) to Arterial calcification, generalized, of infancy, 1 MIM#208000; Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312
Prepair 500+ v1.339 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Prepair 500+ v1.338 EMD Zornitza Stark Marked gene: EMD as ready
Prepair 500+ v1.338 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Prepair 500+ v1.338 EMD Zornitza Stark Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3) to Emery-Dreifuss muscular dystrophy 1, X-linked, MIM# 310300
Prepair 500+ v1.337 EMD Zornitza Stark Publications for gene: EMD were set to
Prepair 500+ v1.336 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Prepair 500+ v1.336 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.336 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900 (3) to Dysautonomia, familial MIM#223900
Prepair 500+ v1.335 ELP1 Zornitza Stark Publications for gene: ELP1 were set to
Prepair 500+ v1.334 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Prepair 500+ v1.334 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Green List (High Evidence).
Prepair 500+ v1.334 EIF2B5 Zornitza Stark Phenotypes for gene: EIF2B5 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure (MIM#620315)
Prepair 500+ v1.333 EIF2B5 Zornitza Stark Publications for gene: EIF2B5 were set to
Prepair 500+ v1.332 EIF2B4 Zornitza Stark Marked gene: EIF2B4 as ready
Prepair 500+ v1.332 EIF2B4 Zornitza Stark Gene: eif2b4 has been classified as Green List (High Evidence).
Prepair 500+ v1.332 EIF2B4 Zornitza Stark Phenotypes for gene: EIF2B4 were changed from Leukoencephaly with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure MIM#620314
Prepair 500+ v1.331 EIF2B4 Zornitza Stark Publications for gene: EIF2B4 were set to
Prepair 500+ v1.330 EIF2B3 Zornitza Stark Marked gene: EIF2B3 as ready
Prepair 500+ v1.330 EIF2B3 Zornitza Stark Gene: eif2b3 has been classified as Green List (High Evidence).
Prepair 500+ v1.330 EIF2B3 Zornitza Stark Phenotypes for gene: EIF2B3 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313
Prepair 500+ v1.329 EIF2B3 Zornitza Stark Publications for gene: EIF2B3 were set to
Prepair 500+ v1.328 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Prepair 500+ v1.328 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Prepair 500+ v1.328 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312
Prepair 500+ v1.327 EIF2B2 Zornitza Stark Publications for gene: EIF2B2 were set to
Prepair 500+ v1.326 EIF2B1 Zornitza Stark Marked gene: EIF2B1 as ready
Prepair 500+ v1.326 EIF2B1 Zornitza Stark Gene: eif2b1 has been classified as Green List (High Evidence).
Prepair 500+ v1.326 EIF2B1 Zornitza Stark Phenotypes for gene: EIF2B1 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896
Prepair 500+ v1.325 EIF2B1 Zornitza Stark Publications for gene: EIF2B1 were set to
Prepair 500+ v1.324 EIF2AK3 Zornitza Stark Marked gene: EIF2AK3 as ready
Prepair 500+ v1.324 EIF2AK3 Zornitza Stark Gene: eif2ak3 has been classified as Green List (High Evidence).
Prepair 500+ v1.324 EIF2AK3 Zornitza Stark Phenotypes for gene: EIF2AK3 were changed from Wolcott-Rallison syndrome, 226980 (3) to Wolcott-Rallison syndrome MIM#226980
Prepair 500+ v1.323 EIF2AK3 Zornitza Stark Publications for gene: EIF2AK3 were set to
Prepair 500+ v1.322 EDA Zornitza Stark Marked gene: EDA as ready
Prepair 500+ v1.322 EDA Zornitza Stark Gene: eda has been classified as Green List (High Evidence).
Prepair 500+ v1.322 EDA Zornitza Stark Phenotypes for gene: EDA were changed from Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3) to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500
Prepair 500+ v1.321 EDA Zornitza Stark Publications for gene: EDA were set to
Prepair 500+ v1.320 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Prepair 500+ v1.320 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Prepair 500+ v1.320 ECHS1 Zornitza Stark Phenotypes for gene: ECHS1 were changed from Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3) to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277
Prepair 500+ v1.319 ECHS1 Zornitza Stark Publications for gene: ECHS1 were set to
Prepair 500+ v1.318 DYSF Zornitza Stark Marked gene: DYSF as ready
Prepair 500+ v1.318 DYSF Zornitza Stark Gene: dysf has been classified as Green List (High Evidence).
Prepair 500+ v1.318 DYSF Zornitza Stark Phenotypes for gene: DYSF were changed from Muscular dystrophy, limb-girdle, type 2B, 253601 (3) to Miyoshi muscular dystrophy 1 MIM#254130; MONDO:0024545; Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601; MONDO:0009676; Myopathy, distal, with anterior tibial onset MIM#606768; MONDO:0011721
Prepair 500+ v1.317 DYSF Zornitza Stark Publications for gene: DYSF were set to
Prepair 500+ v1.316 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Prepair 500+ v1.316 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Prepair 500+ v1.316 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3) to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091
Prepair 500+ v1.315 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Prepair 500+ v1.314 DYM Zornitza Stark Marked gene: DYM as ready
Prepair 500+ v1.314 DYM Zornitza Stark Gene: dym has been classified as Green List (High Evidence).
Prepair 500+ v1.314 DYM Zornitza Stark Phenotypes for gene: DYM were changed from Dyggve-Melchior-Clausen disease, 223800 (3) to Dyggve-Melchior-Clausen disease MIM#223800; Smith-McCort dysplasia MIM#607326
Prepair 500+ v1.313 DYM Zornitza Stark Publications for gene: DYM were set to
Prepair 500+ v1.312 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Prepair 500+ v1.312 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Prepair 500+ v1.312 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300 (3) to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389
Prepair 500+ v1.311 DOK7 Zornitza Stark Publications for gene: DOK7 were set to
Prepair 500+ v1.310 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Prepair 500+ v1.310 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Prepair 500+ v1.310 DOCK6 Zornitza Stark Phenotypes for gene: DOCK6 were changed from Adams-Oliver syndrome 2, 614219 (3) to Adams-Oliver syndrome 2, MIM# 614219
Prepair 500+ v1.309 DOCK6 Zornitza Stark Publications for gene: DOCK6 were set to
Prepair 500+ v1.308 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Prepair 500+ v1.308 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Prepair 500+ v1.308 DNMT3B Zornitza Stark Phenotypes for gene: DNMT3B were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3) to Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (MIM#242860)
Prepair 500+ v1.307 DNAI2 Zornitza Stark Marked gene: DNAI2 as ready
Prepair 500+ v1.307 DNAI2 Zornitza Stark Gene: dnai2 has been classified as Green List (High Evidence).
Prepair 500+ v1.307 DNAI2 Zornitza Stark Phenotypes for gene: DNAI2 were changed from Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444
Prepair 500+ v1.306 DNAI2 Zornitza Stark Publications for gene: DNAI2 were set to
Prepair 500+ v1.305 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
Prepair 500+ v1.305 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Green List (High Evidence).
Prepair 500+ v1.305 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3) to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
Prepair 500+ v1.304 DNAI1 Zornitza Stark Publications for gene: DNAI1 were set to
Prepair 500+ v1.303 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Prepair 500+ v1.303 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Green List (High Evidence).
Prepair 500+ v1.303 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) to Ciliary dyskinesia, primary, 3, with or without situs inversus MIM#608644
Prepair 500+ v1.302 DNAH5 Zornitza Stark Publications for gene: DNAH5 were set to
Prepair 500+ v1.301 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Prepair 500+ v1.301 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Prepair 500+ v1.301 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3) to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Prepair 500+ v1.300 DNAH11 Zornitza Stark Publications for gene: DNAH11 were set to
Prepair 500+ v1.299 DMD Zornitza Stark Marked gene: DMD as ready
Prepair 500+ v1.299 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Prepair 500+ v1.299 DMD Zornitza Stark Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200 (3) to Duchenne muscular dystrophy MIM#310200
Prepair 500+ v1.298 DMD Zornitza Stark Publications for gene: DMD were set to
Prepair 500+ v1.297 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Prepair 500+ v1.297 DLL3 Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence).
Prepair 500+ v1.297 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; MONDO:0020692
Prepair 500+ v1.296 DLL3 Zornitza Stark Publications for gene: DLL3 were set to
Prepair 500+ v1.295 DLG3 Zornitza Stark Marked gene: DLG3 as ready
Prepair 500+ v1.295 DLG3 Zornitza Stark Gene: dlg3 has been classified as Green List (High Evidence).
Prepair 500+ v1.295 DLG3 Zornitza Stark Phenotypes for gene: DLG3 were changed from Mental retardation, X-linked 90, 300850 (3) to Intellectual developmental disorder, X-linked 90 MIM#300850
Prepair 500+ v1.294 DLG3 Zornitza Stark Publications for gene: DLG3 were set to
Prepair 500+ v1.293 DLD Zornitza Stark Marked gene: DLD as ready
Prepair 500+ v1.293 DLD Zornitza Stark Gene: dld has been classified as Green List (High Evidence).
Prepair 500+ v1.293 DLD Zornitza Stark Phenotypes for gene: DLD were changed from Dihydrolipoamide dehydrogenase deficiency, 246900 (3) to Dihydrolipoamide dehydrogenase deficiency (MIM#246900)
Prepair 500+ v1.292 DLD Zornitza Stark Publications for gene: DLD were set to
Prepair 500+ v1.291 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Prepair 500+ v1.291 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Prepair 500+ v1.291 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita, X-linked, 305000 (3) to Dyskeratosis congenita, X-linked MIM#305000
Prepair 500+ v1.290 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Prepair 500+ v1.289 DIS3L2 Zornitza Stark Marked gene: DIS3L2 as ready
Prepair 500+ v1.289 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Prepair 500+ v1.289 DIS3L2 Zornitza Stark Phenotypes for gene: DIS3L2 were changed from Perlman syndrome, 267000 (3) to Perlman syndrome MIM# 267000
Prepair 500+ v1.288 DIS3L2 Zornitza Stark Publications for gene: DIS3L2 were set to
Prepair 500+ v1.287 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Prepair 500+ v1.287 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Prepair 500+ v1.287 DHDDS Zornitza Stark Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59, 613861 (3) to Retinitis pigmentosa 59, MIM#613861; Congenital disorder of glycosylation, type 1bb, MIM# 613861
Prepair 500+ v1.286 DHDDS Zornitza Stark Publications for gene: DHDDS were set to
Prepair 500+ v1.285 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Prepair 500+ v1.285 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Prepair 500+ v1.285 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome, 270400 (3) to Smith-Lemli-Opitz syndrome (MIM#270400)
Prepair 500+ v1.284 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to
Prepair 500+ v1.283 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Prepair 500+ v1.283 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence).
Prepair 500+ v1.283 DHCR24 Zornitza Stark Phenotypes for gene: DHCR24 were changed from Desmosterolosis, 602398 (3) to Desmosterolosis, MIM#602398
Prepair 500+ v1.282 DHCR24 Zornitza Stark Publications for gene: DHCR24 were set to
Prepair 500+ v1.281 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Prepair 500+ v1.281 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Prepair 500+ v1.281 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Prepair 500+ v1.280 DGUOK Zornitza Stark Publications for gene: DGUOK were set to
Prepair 500+ v1.279 DGAT1 Zornitza Stark Marked gene: DGAT1 as ready
Prepair 500+ v1.279 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
Prepair 500+ v1.279 DGAT1 Zornitza Stark Phenotypes for gene: DGAT1 were changed from ?Diarrhea 7, protein-losing enteropathy type to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; congenital diarrhea 7 with exudative enteropathy MONDO:0014375
Prepair 500+ v1.278 DGAT1 Zornitza Stark Publications for gene: DGAT1 were set to
Prepair 500+ v1.277 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Prepair 500+ v1.277 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Prepair 500+ v1.277 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, 613398 (3) to Warsaw breakage syndrome MIM#613398
Prepair 500+ v1.276 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Prepair 500+ v1.275 DDC Zornitza Stark Marked gene: DDC as ready
Prepair 500+ v1.275 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Prepair 500+ v1.275 DDC Zornitza Stark Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency, 608643 (3) to Aromatic L-amino acid decarboxylase deficiency MIM#608643; Aromatic L-amino acid decarboxylase deficiency (MIM#608643)
Prepair 500+ v1.274 DCX Zornitza Stark Marked gene: DCX as ready
Prepair 500+ v1.274 DCX Zornitza Stark Gene: dcx has been classified as Green List (High Evidence).
Prepair 500+ v1.274 DCX Zornitza Stark Phenotypes for gene: DCX were changed from Lissencephaly, X-linked, 300067 (3) to Lissencephaly, X-linked MIM#300067; Subcortical laminal heterotopia, X-linked MIM#300067
Prepair 500+ v1.273 DCX Zornitza Stark Publications for gene: DCX were set to
Prepair 500+ v1.272 DCLRE1C Zornitza Stark Marked gene: DCLRE1C as ready
Prepair 500+ v1.272 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Green List (High Evidence).
Prepair 500+ v1.272 DCLRE1C Zornitza Stark Phenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type, 602450 (3) to Severe combined immunodeficiency, Athabascan type, MIM# 602450; Omenn syndrome, MIM# 603554
Prepair 500+ v1.271 DCLRE1C Zornitza Stark Publications for gene: DCLRE1C were set to
Prepair 500+ v1.270 DCAF17 Zornitza Stark Marked gene: DCAF17 as ready
Prepair 500+ v1.270 DCAF17 Zornitza Stark Gene: dcaf17 has been classified as Green List (High Evidence).
Prepair 500+ v1.270 DCAF17 Zornitza Stark Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, 241080 (3) to Woodhouse-Sakati syndrome MIM#241080
Prepair 500+ v1.269 DCAF17 Zornitza Stark Publications for gene: DCAF17 were set to
Prepair 500+ v1.268 DBT Zornitza Stark Marked gene: DBT as ready
Prepair 500+ v1.268 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Prepair 500+ v1.268 DBT Zornitza Stark Phenotypes for gene: DBT were changed from Maple syrup urine disease, type II, 248600 (3) to Maple syrup urine disease, type II, MIM#248600
Prepair 500+ v1.267 D2HGDH Zornitza Stark Marked gene: D2HGDH as ready
Prepair 500+ v1.267 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Green List (High Evidence).
Prepair 500+ v1.267 D2HGDH Zornitza Stark Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria, 600721 (3) to D-2-hydroxyglutaric aciduria, MIM#600721
Prepair 500+ v1.266 D2HGDH Zornitza Stark Publications for gene: D2HGDH were set to
Prepair 500+ v1.265 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Prepair 500+ v1.265 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Prepair 500+ v1.265 CYP7B1 Zornitza Stark Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3, 613812 (3) to Bile acid synthesis defect, congenital, 3, MIM#613812; Spastic paraplegia 5A, MIM#270800
Prepair 500+ v1.264 CYP7B1 Zornitza Stark Publications for gene: CYP7B1 were set to
Prepair 500+ v1.263 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
Prepair 500+ v1.263 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.263 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis, 213700 (3) to Cerebrotendinous xanthomatosis, MIM#213700
Prepair 500+ v1.262 CYP1B1 Zornitza Stark Marked gene: CYP1B1 as ready
Prepair 500+ v1.262 CYP1B1 Zornitza Stark Gene: cyp1b1 has been classified as Green List (High Evidence).
Prepair 500+ v1.262 CYP1B1 Zornitza Stark Phenotypes for gene: CYP1B1 were changed from Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3) to Anterior segment dysgenesis 6, multiple subtypes, MIM#617315
Prepair 500+ v1.261 CYP1B1 Zornitza Stark Publications for gene: CYP1B1 were set to
Prepair 500+ v1.260 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Prepair 500+ v1.260 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.260 CYP17A1 Zornitza Stark Phenotypes for gene: CYP17A1 were changed from 17,20-lyase deficiency, isolated, 202110 (3) to 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110
Prepair 500+ v1.259 CYP17A1 Zornitza Stark Publications for gene: CYP17A1 were set to
Prepair 500+ v1.258 CYP11B2 Zornitza Stark Marked gene: CYP11B2 as ready
Prepair 500+ v1.258 CYP11B2 Zornitza Stark Gene: cyp11b2 has been classified as Green List (High Evidence).
Prepair 500+ v1.258 CYP11B2 Zornitza Stark Phenotypes for gene: CYP11B2 were changed from Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3) to Hypoaldosteronism, congenital, due to CMO I deficiency MIM#203400; Hypoaldosteronism, congenital, due to CMO II deficiency MIM#610600
Prepair 500+ v1.257 CYP11B2 Zornitza Stark Publications for gene: CYP11B2 were set to
Prepair 500+ v1.256 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Prepair 500+ v1.256 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.256 CYP11A1 Zornitza Stark Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete MIM#613743
Prepair 500+ v1.255 CYP11A1 Zornitza Stark Publications for gene: CYP11A1 were set to
Prepair 500+ v1.254 CYBB Zornitza Stark reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease, X-linked, MIM#306400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 500+ v1.254 CYBB Zornitza Stark Marked gene: CYBB as ready
Prepair 500+ v1.254 CYBB Zornitza Stark Gene: cybb has been classified as Green List (High Evidence).
Prepair 500+ v1.254 CYBB Zornitza Stark Phenotypes for gene: CYBB were changed from Chronic granulomatous disease, X-linked, 306400 (3) to Chronic granulomatous disease, X-linked, MIM#306400
Prepair 500+ v1.253 CYBB Zornitza Stark Publications for gene: CYBB were set to
Prepair 500+ v1.252 CYBA Zornitza Stark Marked gene: CYBA as ready
Prepair 500+ v1.252 CYBA Zornitza Stark Gene: cyba has been classified as Green List (High Evidence).
Prepair 500+ v1.252 CYBA Zornitza Stark Phenotypes for gene: CYBA were changed from Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3) to Chronic granulomatous disease 4 MIM#233690
Prepair 500+ v1.251 CYBA Zornitza Stark Publications for gene: CYBA were set to
Prepair 500+ v1.250 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Prepair 500+ v1.250 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Prepair 500+ v1.250 CUL4B Zornitza Stark Phenotypes for gene: CUL4B were changed from Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3) to Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354
Prepair 500+ v1.249 CUL4B Zornitza Stark Publications for gene: CUL4B were set to
Prepair 500+ v1.248 CTSK Zornitza Stark Marked gene: CTSK as ready
Prepair 500+ v1.248 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Prepair 500+ v1.248 CTSK Zornitza Stark Phenotypes for gene: CTSK were changed from Pycnodysostosis, 265800 (3) to Pycnodysostosis MIM#265800
Prepair 500+ v1.247 CTSK Zornitza Stark Publications for gene: CTSK were set to
Prepair 500+ v1.246 CTSD Zornitza Stark Marked gene: CTSD as ready
Prepair 500+ v1.246 CTSD Zornitza Stark Gene: ctsd has been classified as Green List (High Evidence).
Prepair 500+ v1.246 CTSD Zornitza Stark Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10, 610127 (3) to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127
Prepair 500+ v1.245 CTSC Zornitza Stark Marked gene: CTSC as ready
Prepair 500+ v1.245 CTSC Zornitza Stark Gene: ctsc has been classified as Green List (High Evidence).
Prepair 500+ v1.245 CTSC Zornitza Stark Phenotypes for gene: CTSC were changed from Papillon-Lefevre syndrome, 245000 (3) to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000
Prepair 500+ v1.244 CTSA Zornitza Stark Marked gene: CTSA as ready
Prepair 500+ v1.244 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Prepair 500+ v1.244 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from Galactosialidosis, 256540 (3) to Galactosialidosis MIM#256540
Prepair 500+ v1.243 CTSA Zornitza Stark Publications for gene: CTSA were set to
Prepair 500+ v1.242 CTNS Zornitza Stark Marked gene: CTNS as ready
Prepair 500+ v1.242 CTNS Zornitza Stark Gene: ctns has been classified as Green List (High Evidence).
Prepair 500+ v1.242 CTNS Zornitza Stark Phenotypes for gene: CTNS were changed from Cystinosis, nephropathic, 219800 (3) to Cystinosis, nephropathic MIM#219800
Prepair 500+ v1.241 CTNS Zornitza Stark Publications for gene: CTNS were set to
Prepair 500+ v1.240 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Prepair 500+ v1.240 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.240 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, 615636 (3) to Joubert syndrome 21 MIM#615636; MONDO:0014288
Prepair 500+ v1.239 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Prepair 500+ v1.238 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Prepair 500+ v1.238 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
Prepair 500+ v1.238 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from Osteogenesis imperfecta, type VII, 610682 (3) to Osteogenesis imperfecta, type VII MIM#610682
Prepair 500+ v1.237 CRTAP Zornitza Stark Publications for gene: CRTAP were set to
Prepair 500+ v1.236 CRB1 Zornitza Stark Marked gene: CRB1 as ready
Prepair 500+ v1.236 CRB1 Zornitza Stark Gene: crb1 has been classified as Green List (High Evidence).
Prepair 500+ v1.236 CRB1 Zornitza Stark Phenotypes for gene: CRB1 were changed from Leber congenital amaurosis 8, 613835 (3) to Leber congenital amaurosis 8, MIM#613835
Prepair 500+ v1.235 CRB1 Zornitza Stark Publications for gene: CRB1 were set to
Prepair 500+ v1.234 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Prepair 500+ v1.234 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Prepair 500+ v1.234 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from CPT II deficiency, lethal neonatal, 608836 (3) to CPT II deficiency, infantile MIM#600649; CPT II deficiency, lethal neonatal MIM#608836
Prepair 500+ v1.233 CPT2 Zornitza Stark Publications for gene: CPT2 were set to
Prepair 500+ v1.232 CPT1A Zornitza Stark Marked gene: CPT1A as ready
Prepair 500+ v1.232 CPT1A Zornitza Stark Gene: cpt1a has been classified as Green List (High Evidence).
Prepair 500+ v1.232 CPT1A Zornitza Stark Phenotypes for gene: CPT1A were changed from CPT deficiency, hepatic, type IA, 255120 (3) to CPT deficiency, hepatic, type IA, MIM#255120
Prepair 500+ v1.231 CPT1A Zornitza Stark Publications for gene: CPT1A were set to
Prepair 500+ v1.230 CPS1 Zornitza Stark Marked gene: CPS1 as ready
Prepair 500+ v1.230 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Prepair 500+ v1.230 CPS1 Zornitza Stark Phenotypes for gene: CPS1 were changed from Carbamoylphosphate synthetase I deficiency, 237300 (3) to Carbamoylphosphate synthetase I deficiency MIM#237300
Prepair 500+ v1.229 CPS1 Zornitza Stark Publications for gene: CPS1 were set to
Prepair 500+ v1.228 COX15 Zornitza Stark Marked gene: COX15 as ready
Prepair 500+ v1.228 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Prepair 500+ v1.228 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3) to Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119
Prepair 500+ v1.227 COX15 Zornitza Stark Publications for gene: COX15 were set to
Prepair 500+ v1.226 COLQ Zornitza Stark Marked gene: COLQ as ready
Prepair 500+ v1.226 COLQ Zornitza Stark Gene: colq has been classified as Green List (High Evidence).
Prepair 500+ v1.226 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 (3) to Myasthenic syndrome, congenital, 5 MIM#603034; MONDO:0011281
Prepair 500+ v1.225 COLQ Zornitza Stark Publications for gene: COLQ were set to
Prepair 500+ v1.224 COLEC11 Zornitza Stark Marked gene: COLEC11 as ready
Prepair 500+ v1.224 COLEC11 Zornitza Stark Gene: colec11 has been classified as Green List (High Evidence).
Prepair 500+ v1.224 COLEC11 Zornitza Stark Phenotypes for gene: COLEC11 were changed from 3MC syndrome 2, 265050 (3) to 3MC syndrome 2, MIM# 265050; MONDO:0009927
Prepair 500+ v1.223 COLEC11 Zornitza Stark Publications for gene: COLEC11 were set to
Prepair 500+ v1.222 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Prepair 500+ v1.222 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.222 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica, AR, 226600 (3) to Epidermolysis bullosa dystrophica inversa MIM#226600; Epidermolysis bullosa dystrophica, autosomal recessive MIM#226600; Epidermolysis bullosa dystrophica, localisata variant MIM#226600; Epidermolysis bullosa pruriginosa MIM#604129
Prepair 500+ v1.221 COL7A1 Zornitza Stark Publications for gene: COL7A1 were set to
Prepair 500+ v1.220 COL6A1 Zornitza Stark Marked gene: COL6A1 as ready
Prepair 500+ v1.220 COL6A1 Zornitza Stark Gene: col6a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.220 COL6A1 Zornitza Stark Phenotypes for gene: COL6A1 were changed from Ullrich congenital muscular dystrophy 1, 254090 (3) to Ullrich congenital muscular dystrophy 1A MIM#254090
Prepair 500+ v1.219 COL6A1 Zornitza Stark Publications for gene: COL6A1 were set to
Prepair 500+ v1.218 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Prepair 500+ v1.218 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Prepair 500+ v1.218 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from Alport syndrome 1, X-linked to Alport syndrome 1, X-linked, MIM#301050
Prepair 500+ v1.217 COL4A5 Zornitza Stark Publications for gene: COL4A5 were set to
Prepair 500+ v1.216 COL4A4 Zornitza Stark Marked gene: COL4A4 as ready
Prepair 500+ v1.216 COL4A4 Zornitza Stark Gene: col4a4 has been classified as Green List (High Evidence).
Prepair 500+ v1.216 COL4A4 Zornitza Stark Phenotypes for gene: COL4A4 were changed from Alport syndrome, autosomal recessive, 203780 (3) to Alport syndrome 2, autosomal recessive MIM# 203780
Prepair 500+ v1.215 COL4A4 Zornitza Stark Publications for gene: COL4A4 were set to
Prepair 500+ v1.214 COL4A3 Zornitza Stark Marked gene: COL4A3 as ready
Prepair 500+ v1.214 COL4A3 Zornitza Stark Gene: col4a3 has been classified as Green List (High Evidence).
Prepair 500+ v1.214 COL4A3 Zornitza Stark Phenotypes for gene: COL4A3 were changed from Alport syndrome, autosomal recessive, 203780 (3) to Alport syndrome 3b, autosomal recessive MIM#620536; MONDO:0957811
Prepair 500+ v1.213 COL4A3 Zornitza Stark Publications for gene: COL4A3 were set to
Prepair 500+ v1.212 COL27A1 Zornitza Stark Marked gene: COL27A1 as ready
Prepair 500+ v1.212 COL27A1 Zornitza Stark Gene: col27a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.212 COL27A1 Zornitza Stark Phenotypes for gene: COL27A1 were changed from Steel Syndrome to Steel syndrome (MIM#615155)
Prepair 500+ v1.211 COL27A1 Zornitza Stark Publications for gene: COL27A1 were set to
Prepair 500+ v1.210 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Prepair 500+ v1.210 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.210 COL18A1 Zornitza Stark Phenotypes for gene: COL18A1 were changed from Knobloch syndrome, type 1, 267750 (3) to Knobloch syndrome, type 1 MIM#267750
Prepair 500+ v1.209 COL18A1 Zornitza Stark Publications for gene: COL18A1 were set to
Prepair 500+ v1.208 COL17A1 Zornitza Stark Marked gene: COL17A1 as ready
Prepair 500+ v1.208 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.208 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) to Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787
Prepair 500+ v1.207 COL17A1 Zornitza Stark Publications for gene: COL17A1 were set to
Prepair 500+ v1.206 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Prepair 500+ v1.206 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Prepair 500+ v1.206 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from Fibrochondrogenesis 2, 614524 (3) to Deafness, autosomal recessive 53 MIM#609706; Fibrochondrogenesis 2 MIM#614524; Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150
Prepair 500+ v1.205 COL11A2 Zornitza Stark Publications for gene: COL11A2 were set to
Prepair 500+ v1.204 CNGB3 Zornitza Stark Marked gene: CNGB3 as ready
Prepair 500+ v1.204 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Green List (High Evidence).
Prepair 500+ v1.204 CNGB3 Zornitza Stark Phenotypes for gene: CNGB3 were changed from Macular degeneration, juvenile, 248200 (3) to Achromatopsia 3 MIM#262300
Prepair 500+ v1.203 CNGB3 Zornitza Stark Publications for gene: CNGB3 were set to
Prepair 500+ v1.202 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
Prepair 500+ v1.202 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Green List (High Evidence).
Prepair 500+ v1.202 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from Usher syndrome, type 3A, 276902 (3) to Usher syndrome, type 3A, MIM#276902
Prepair 500+ v1.201 CLRN1 Zornitza Stark Publications for gene: CLRN1 were set to
Prepair 500+ v1.200 CLPB Zornitza Stark Marked gene: CLPB as ready
Prepair 500+ v1.200 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Prepair 500+ v1.200 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3) to 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271)
Prepair 500+ v1.199 CLPB Zornitza Stark Publications for gene: CLPB were set to
Prepair 500+ v1.198 CLP1 Zornitza Stark Marked gene: CLP1 as ready
Prepair 500+ v1.198 CLP1 Zornitza Stark Gene: clp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.198 CLP1 Zornitza Stark Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia, type 10, 615803 (3) to Pontocerebellar hypoplasia, type 10 MIM#615803
Prepair 500+ v1.197 CLP1 Zornitza Stark Publications for gene: CLP1 were set to
Prepair 500+ v1.196 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Prepair 500+ v1.196 CLN8 Zornitza Stark Gene: cln8 has been classified as Green List (High Evidence).
Prepair 500+ v1.196 CLN8 Zornitza Stark Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8, 600143 (3) to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143
Prepair 500+ v1.195 CLN6 Zornitza Stark Marked gene: CLN6 as ready
Prepair 500+ v1.195 CLN6 Zornitza Stark Gene: cln6 has been classified as Green List (High Evidence).
Prepair 500+ v1.195 CLN6 Zornitza Stark Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal 6, 601780 (3) to Ceroid lipofuscinosis, neuronal 6, MIM#601780
Prepair 500+ v1.194 CLN6 Zornitza Stark Publications for gene: CLN6 were set to
Prepair 500+ v1.193 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Prepair 500+ v1.193 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Prepair 500+ v1.193 CLN5 Zornitza Stark Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, 256731 (3) to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745
Prepair 500+ v1.192 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Prepair 500+ v1.192 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Prepair 500+ v1.192 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4, 611490 (3) to Osteopetrosis, autosomal recessive 4, MIM#611490
Prepair 500+ v1.191 CLCN7 Zornitza Stark Publications for gene: CLCN7 were set to
Prepair 500+ v1.190 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Prepair 500+ v1.190 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Green List (High Evidence).
Prepair 500+ v1.190 CLCN5 Zornitza Stark Phenotypes for gene: CLCN5 were changed from Dent disease, 300009 (3) to Dent disease, MIM#300009
Prepair 500+ v1.189 CKAP2L Zornitza Stark Marked gene: CKAP2L as ready
Prepair 500+ v1.189 CKAP2L Zornitza Stark Gene: ckap2l has been classified as Green List (High Evidence).
Prepair 500+ v1.189 CKAP2L Zornitza Stark Phenotypes for gene: CKAP2L were changed from Filippi syndrome, 272440 (3) to Filippi syndrome MIM#272440
Prepair 500+ v1.188 CKAP2L Zornitza Stark Publications for gene: CKAP2L were set to
Prepair 500+ v1.187 CIITA Zornitza Stark Marked gene: CIITA as ready
Prepair 500+ v1.187 CIITA Zornitza Stark Gene: ciita has been classified as Green List (High Evidence).
Prepair 500+ v1.187 CIITA Zornitza Stark Phenotypes for gene: CIITA were changed from Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) to MHC class II deficiency 1 MIM#209920
Prepair 500+ v1.186 CIITA Zornitza Stark Publications for gene: CIITA were set to
Prepair 500+ v1.185 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Prepair 500+ v1.185 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Prepair 500+ v1.185 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from Escobar syndrome, 265000 (3) to Escobar syndrome (MIM# 265000); Multiple pterygium syndrome, lethal type, (MIM# 253290)
Prepair 500+ v1.184 CHRNG Zornitza Stark Publications for gene: CHRNG were set to
Prepair 500+ v1.183 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Prepair 500+ v1.183 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Prepair 500+ v1.183 CHRNE Zornitza Stark Phenotypes for gene: CHRNE were changed from Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3) to Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809; Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931
Prepair 500+ v1.182 CHRNE Zornitza Stark Publications for gene: CHRNE were set to
Prepair 500+ v1.181 CHAT Zornitza Stark Marked gene: CHAT as ready
Prepair 500+ v1.181 CHAT Zornitza Stark Gene: chat has been classified as Green List (High Evidence).
Prepair 500+ v1.181 CHAT Zornitza Stark Phenotypes for gene: CHAT were changed from Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3) to Myasthenic syndrome, congenital, 6, presynaptic MIM#254210
Prepair 500+ v1.180 CHAT Zornitza Stark Publications for gene: CHAT were set to
Prepair 500+ v1.179 CFTR Zornitza Stark Marked gene: CFTR as ready
Prepair 500+ v1.179 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Prepair 500+ v1.179 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from Cystic fibrosis, 219700 (3) to Cystic fibrosis, MIM#219700; MONDO:0009061
Prepair 500+ v1.178 CFTR Zornitza Stark Publications for gene: CFTR were set to
Prepair 500+ v1.177 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Prepair 500+ v1.177 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Prepair 500+ v1.177 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from Joubert syndrome 15, 614464 (3) to Joubert syndrome 15, MIM# 614464
Prepair 500+ v1.176 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Prepair 500+ v1.175 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Prepair 500+ v1.175 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Prepair 500+ v1.175 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from Joubert syndrome 5, 610188 (3) to CEP290-related ciliopathy MONDO:0100451; Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
Prepair 500+ v1.174 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Prepair 500+ v1.173 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Prepair 500+ v1.173 CEP152 Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence).
Prepair 500+ v1.173 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from Seckel syndrome 5, 613823 (3) to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Prepair 500+ v1.172 CEP152 Zornitza Stark Publications for gene: CEP152 were set to
Prepair 500+ v1.171 CENPJ Zornitza Stark Marked gene: CENPJ as ready
Prepair 500+ v1.171 CENPJ Zornitza Stark Gene: cenpj has been classified as Green List (High Evidence).
Prepair 500+ v1.171 CENPJ Zornitza Stark Phenotypes for gene: CENPJ were changed from Microcephaly 6, primary, autosomal recessive, 608393 (3) to Microcephaly 6, primary MIM#608393; Seckel syndrome 4 MIM#613676
Prepair 500+ v1.170 CENPJ Zornitza Stark Publications for gene: CENPJ were set to
Prepair 500+ v1.169 CDH23 Zornitza Stark Marked gene: CDH23 as ready
Prepair 500+ v1.169 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
Prepair 500+ v1.169 CDH23 Zornitza Stark Phenotypes for gene: CDH23 were changed from Usher syndrome, type 1D, 601067 (3) to Usher syndrome, type 1D (MIM#601067)
Prepair 500+ v1.168 CDH23 Zornitza Stark Publications for gene: CDH23 were set to
Prepair 500+ v1.167 CD40LG Zornitza Stark Marked gene: CD40LG as ready
Prepair 500+ v1.167 CD40LG Zornitza Stark Gene: cd40lg has been classified as Green List (High Evidence).
Prepair 500+ v1.167 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230
Prepair 500+ v1.166 CD40LG Zornitza Stark Publications for gene: CD40LG were set to
Prepair 500+ v1.165 CD40 Zornitza Stark Marked gene: CD40 as ready
Prepair 500+ v1.165 CD40 Zornitza Stark Gene: cd40 has been classified as Green List (High Evidence).
Prepair 500+ v1.165 CD40 Zornitza Stark Phenotypes for gene: CD40 were changed from Immunodeficiency with hyper-IgM, type 3, 606843 (3) to Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Prepair 500+ v1.164 CD3D Zornitza Stark Marked gene: CD3D as ready
Prepair 500+ v1.164 CD3D Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence).
Prepair 500+ v1.164 CD3D Zornitza Stark Phenotypes for gene: CD3D were changed from Immunodeficiency 19, 615617 (3) to Immunodeficiency 19, severe combined MIM# 615617
Prepair 500+ v1.163 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Prepair 500+ v1.163 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Prepair 500+ v1.163 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3) to Hydrocephalus, congenital, 1 MIM#236600
Prepair 500+ v1.162 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Prepair 500+ v1.161 CCDC39 Zornitza Stark Marked gene: CCDC39 as ready
Prepair 500+ v1.161 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Green List (High Evidence).
Prepair 500+ v1.161 CCDC39 Zornitza Stark Phenotypes for gene: CCDC39 were changed from Ciliary dyskinesia, primary, 14, 613807 (3) to Ciliary dyskinesia, primary, 14 MIM#613807
Prepair 500+ v1.160 CCDC39 Zornitza Stark Publications for gene: CCDC39 were set to
Prepair 500+ v1.159 CCDC103 Zornitza Stark Marked gene: CCDC103 as ready
Prepair 500+ v1.159 CCDC103 Zornitza Stark Gene: ccdc103 has been classified as Green List (High Evidence).
Prepair 500+ v1.159 CCDC103 Zornitza Stark Phenotypes for gene: CCDC103 were changed from Ciliary dyskinesia, primary, 17, 614679 (3) to Primary ciliary dyskinesia-17, MIM # 614679
Prepair 500+ v1.158 CCDC103 Zornitza Stark Publications for gene: CCDC103 were set to
Prepair 500+ v1.157 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Prepair 500+ v1.157 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Prepair 500+ v1.157 CCBE1 Zornitza Stark Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3) to Hennekam lymphangiectasia-lymphoedema syndrome 1 MIM#235510
Prepair 500+ v1.156 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Prepair 500+ v1.155 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Prepair 500+ v1.155 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Prepair 500+ v1.155 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9, 612285 (3) to COACH syndrome, MIM#216360; Joubert syndrome 9, MIM#612285; Meckel syndrome 6, MIM#612284; Retinitis pigmentosa 93, MIM# 619845
Prepair 500+ v1.154 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Prepair 500+ v1.153 CC2D1A Zornitza Stark Marked gene: CC2D1A as ready
Prepair 500+ v1.153 CC2D1A Zornitza Stark Gene: cc2d1a has been classified as Green List (High Evidence).
Prepair 500+ v1.153 CC2D1A Zornitza Stark Phenotypes for gene: CC2D1A were changed from Mental retardation, autosomal recessive 3, 608443 (3) to Intellectual developmental disorder, autosomal recessive 3, MIM# 608443
Prepair 500+ v1.152 CC2D1A Zornitza Stark Publications for gene: CC2D1A were set to
Prepair 500+ v1.151 CASQ2 Zornitza Stark Marked gene: CASQ2 as ready
Prepair 500+ v1.151 CASQ2 Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence).
Prepair 500+ v1.151 CASQ2 Zornitza Stark Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3) to Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938)
Prepair 500+ v1.150 CASK Zornitza Stark Marked gene: CASK as ready
Prepair 500+ v1.150 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Prepair 500+ v1.150 CASK Zornitza Stark Phenotypes for gene: CASK were changed from Mental retardation, with or without nystagmus to X-linked syndromic intellectual disability MONDO:0020119
Prepair 500+ v1.149 CASK Zornitza Stark Publications for gene: CASK were set to
Prepair 500+ v1.148 GNE Zornitza Stark Marked gene: GNE as ready
Prepair 500+ v1.148 GNE Zornitza Stark Gene: gne has been classified as Red List (Low Evidence).
Prepair 500+ v1.148 GNE Zornitza Stark Phenotypes for gene: GNE were changed from Inclusion body myopathy, autosomal recessive, 600737 (3) to Nonaka myopathy MIM#605820; Thrombocytopenia 12 with or without myopathy MIM#620757
Prepair 500+ v1.147 GNE Zornitza Stark Publications for gene: GNE were set to
Prepair 500+ v1.146 GNE Zornitza Stark Classified gene: GNE as Red List (low evidence)
Prepair 500+ v1.146 GNE Zornitza Stark Gene: gne has been classified as Red List (Low Evidence).
Prepair 500+ v1.145 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Prepair 500+ v1.145 CLN3 Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
Prepair 500+ v1.145 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3, 204200 (3) to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767
Prepair 500+ v1.144 CLN3 Zornitza Stark Publications for gene: CLN3 were set to
Prepair 500+ v1.143 CLN3 Zornitza Stark Classified gene: CLN3 as Amber List (moderate evidence)
Prepair 500+ v1.143 CLN3 Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
Prepair 500+ v1.142 CAPN3 Zornitza Stark Marked gene: CAPN3 as ready
Prepair 500+ v1.142 CAPN3 Zornitza Stark Gene: capn3 has been classified as Green List (High Evidence).
Prepair 500+ v1.142 CAPN3 Zornitza Stark Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, type 2A, 253600 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM#253600
Prepair 500+ v1.141 CAPN3 Zornitza Stark Publications for gene: CAPN3 were set to
Prepair 500+ v1.140 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Prepair 500+ v1.140 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Prepair 500+ v1.140 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from Desbuquois dysplasia, 251450 (3) to Desbuquois dysplasia 1, MIM# 251450; Epiphyseal dysplasia, multiple, 7, MIM# 617719
Prepair 500+ v1.139 CANT1 Zornitza Stark Publications for gene: CANT1 were set to
Prepair 500+ v1.138 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Prepair 500+ v1.138 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Prepair 500+ v1.138 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17, 614615 (3) to Joubert syndrome 17, MIM# 614615; Orofaciodigital syndrome VI, MIM# 277170
Prepair 500+ v1.137 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Prepair 500+ v1.136 BTK Zornitza Stark Marked gene: BTK as ready
Prepair 500+ v1.136 BTK Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
Prepair 500+ v1.136 BTK Zornitza Stark Phenotypes for gene: BTK were changed from Agammaglobulinemia and isolated hormone deficiency, 307200 (3) to Agammaglobulinemia, X-linked 1 MIM#300755; Bruton-type agammaglobulinemia MONDO:0010421; Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615
Prepair 500+ v1.135 BTK Zornitza Stark Publications for gene: BTK were set to
Prepair 500+ v1.134 BSND Zornitza Stark Marked gene: BSND as ready
Prepair 500+ v1.134 BSND Zornitza Stark Gene: bsnd has been classified as Green List (High Evidence).
Prepair 500+ v1.134 BSND Zornitza Stark Phenotypes for gene: BSND were changed from Bartter syndrome, type 4a, 602522 (3) to Bartter syndrome, type 4a MIM#602522
Prepair 500+ v1.133 BSND Zornitza Stark Publications for gene: BSND were set to
Prepair 500+ v1.132 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
Prepair 500+ v1.132 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Green List (High Evidence).
Prepair 500+ v1.132 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93, 300659 (3) to Intellectual developmental disorder, X-linked 93 MIM#300659
Prepair 500+ v1.131 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Prepair 500+ v1.130 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Prepair 500+ v1.130 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Prepair 500+ v1.130 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) to Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Prepair 500+ v1.129 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to
Prepair 500+ v1.128 BLM Zornitza Stark Marked gene: BLM as ready
Prepair 500+ v1.128 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Prepair 500+ v1.128 BLM Zornitza Stark Phenotypes for gene: BLM were changed from Bloom syndrome, 210900 (3) to Bloom Syndrome MIM# 210900
Prepair 500+ v1.127 BLM Zornitza Stark Publications for gene: BLM were set to
Prepair 500+ v1.126 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Prepair 500+ v1.126 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Prepair 500+ v1.126 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from GRACILE syndrome, 603358 (3) to GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type 1, MIM#124000
Prepair 500+ v1.125 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Prepair 500+ v1.124 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Prepair 500+ v1.124 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Prepair 500+ v1.124 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease, type Ib, 248600 (3) to Maple syrup urine disease, type Ib 620698
Prepair 500+ v1.123 BCKDHB Zornitza Stark Publications for gene: BCKDHB were set to
Prepair 500+ v1.122 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Prepair 500+ v1.122 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Prepair 500+ v1.122 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease, type Ia, 248600 (3) to Maple syrup urine disease, type Ia, MIM# 248600
Prepair 500+ v1.121 BCKDHA Zornitza Stark Publications for gene: BCKDHA were set to
Prepair 500+ v1.120 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Prepair 500+ v1.120 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Prepair 500+ v1.120 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, 615986 (3) to Bardet-Biedl syndrome 9 MIM#615986
Prepair 500+ v1.119 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Prepair 500+ v1.118 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Prepair 500+ v1.118 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Prepair 500+ v1.118 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, 615984 (3) to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Prepair 500+ v1.117 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Prepair 500+ v1.116 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Prepair 500+ v1.116 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Prepair 500+ v1.116 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome 5, 615983 (3) to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Prepair 500+ v1.115 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Prepair 500+ v1.114 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Prepair 500+ v1.114 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Prepair 500+ v1.114 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome 4, 615982 (3) to Bardet-Biedl syndrome 4, MIM#615982
Prepair 500+ v1.113 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Prepair 500+ v1.113 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Prepair 500+ v1.113 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from Bardet-Biedl syndrome 2, 615981 (3) to Bardet-Biedl syndrome 2, MIM#615981
Prepair 500+ v1.112 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Prepair 500+ v1.112 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Prepair 500+ v1.112 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from Bardet-Biedl syndrome 12, 615989 (3) to Bardet-Biedl syndrome 12, MIM#615989
Prepair 500+ v1.111 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Prepair 500+ v1.111 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Prepair 500+ v1.111 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from Bardet-Biedl syndrome 10, 615987 (3) to Bardet-Biedl syndrome 10 (MIM#615987)
Prepair 500+ v1.110 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Prepair 500+ v1.109 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Prepair 500+ v1.109 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Prepair 500+ v1.109 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, 209900 (3) to Bardet-Biedl syndrome 1, MIM# 209900
Prepair 500+ v1.108 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Prepair 500+ v1.107 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Prepair 500+ v1.107 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Prepair 500+ v1.107 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from Peters-plus syndrome, 261540 (3) to Peters-plus syndrome (MIM#261540)
Prepair 500+ v1.106 B3GLCT Zornitza Stark Publications for gene: B3GLCT were set to
Prepair 500+ v1.105 AUH Zornitza Stark Marked gene: AUH as ready
Prepair 500+ v1.105 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Prepair 500+ v1.105 AUH Zornitza Stark Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, 250950 (3) to 3-methylglutaconic aciduria, type I, MIM# 250950; MONDO:0009610
Prepair 500+ v1.104 AUH Zornitza Stark Publications for gene: AUH were set to
Prepair 500+ v1.103 ATRX Zornitza Stark Marked gene: ATRX as ready
Prepair 500+ v1.103 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Prepair 500+ v1.103 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) to Alpha thalassemia X-linked intellectual disability syndrome MONDO:0010519
Prepair 500+ v1.102 ATRX Zornitza Stark Publications for gene: ATRX were set to
Prepair 500+ v1.101 ATR Zornitza Stark Marked gene: ATR as ready
Prepair 500+ v1.101 ATR Zornitza Stark Gene: atr has been classified as Green List (High Evidence).
Prepair 500+ v1.101 ATR Zornitza Stark Phenotypes for gene: ATR were changed from Seckel syndrome 1, 210600 (3) to Seckel syndrome 1(MIM#210600)
Prepair 500+ v1.100 ATR Zornitza Stark Publications for gene: ATR were set to
Prepair 500+ v1.99 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Prepair 500+ v1.99 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Green List (High Evidence).
Prepair 500+ v1.99 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from Cholestasis, progressive familial intrahepatic 1, 211600 (3) to Cholestasis, progressive familial intrahepatic 1, MIM#211600
Prepair 500+ v1.98 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Prepair 500+ v1.98 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Prepair 500+ v1.98 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from Wilson disease, 277900 (3) to Wilson disease (MIM#277900)
Prepair 500+ v1.97 ATP7B Zornitza Stark Publications for gene: ATP7B were set to 28433102
Prepair 500+ v1.96 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Prepair 500+ v1.96 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Prepair 500+ v1.96 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Menkes disease, 309400 (3) to Menkes disease(MIM#309400); Occipital horn syndrome(MIM#304150)
Prepair 500+ v1.95 ATP7A Zornitza Stark Publications for gene: ATP7A were set to
Prepair 500+ v1.94 ATP6V1B1 Zornitza Stark Marked gene: ATP6V1B1 as ready
Prepair 500+ v1.94 ATP6V1B1 Zornitza Stark Gene: atp6v1b1 has been classified as Green List (High Evidence).
Prepair 500+ v1.94 ATP6V1B1 Zornitza Stark Phenotypes for gene: ATP6V1B1 were changed from Renal tubular acidosis with deafness, 267300 (3) to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Prepair 500+ v1.93 ATM Zornitza Stark Marked gene: ATM as ready
Prepair 500+ v1.93 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Prepair 500+ v1.93 ATM Zornitza Stark Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 208900 (3) to Ataxia-telangiectasia, MIM# 208900
Prepair 500+ v1.92 ATM Zornitza Stark Publications for gene: ATM were set to
Prepair 500+ v1.91 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Prepair 500+ v1.91 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Prepair 500+ v1.91 ASS1 Zornitza Stark Phenotypes for gene: ASS1 were changed from Citrullinemia, 215700 (3) to Citrullinaemia (MIM# 215700)
Prepair 500+ v1.90 ASS1 Zornitza Stark Publications for gene: ASS1 were set to
Prepair 500+ v1.89 ASPM Zornitza Stark Marked gene: ASPM as ready
Prepair 500+ v1.89 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Prepair 500+ v1.89 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from Microcephaly 5, primary, autosomal recessive, 608716 (3) to Microcephaly 5, primary, autosomal recessive (MIM#608716)
Prepair 500+ v1.88 ASPM Zornitza Stark Publications for gene: ASPM were set to
Prepair 500+ v1.87 ASPA Zornitza Stark Marked gene: ASPA as ready
Prepair 500+ v1.87 ASPA Zornitza Stark Gene: aspa has been classified as Green List (High Evidence).
Prepair 500+ v1.87 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from Canavan disease, 271900 (3) to Canavan disease MIM#271900
Prepair 500+ v1.86 ASPA Zornitza Stark Publications for gene: ASPA were set to
Prepair 500+ v1.85 ASNS Zornitza Stark Marked gene: ASNS as ready
Prepair 500+ v1.85 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Prepair 500+ v1.85 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency, 615574 (3) to Asparagine synthetase deficiency, MIM#615574
Prepair 500+ v1.84 ASNS Zornitza Stark Publications for gene: ASNS were set to
Prepair 500+ v1.83 ASL Zornitza Stark Marked gene: ASL as ready
Prepair 500+ v1.83 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Prepair 500+ v1.83 ASL Zornitza Stark Phenotypes for gene: ASL were changed from Argininosuccinic aciduria, 207900 (3) to Argininosuccinic aciduria MIM#207900
Prepair 500+ v1.82 ASL Zornitza Stark Publications for gene: ASL were set to
Prepair 500+ v1.81 ARX Zornitza Stark Marked gene: ARX as ready
Prepair 500+ v1.81 ARX Zornitza Stark Gene: arx has been classified as Green List (High Evidence).
Prepair 500+ v1.81 ARX Zornitza Stark Phenotypes for gene: ARX were changed from Hydranencephaly with abnormal genitalia, 300215 (3) to Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004
Prepair 500+ v1.80 ARX Zornitza Stark Publications for gene: ARX were set to
Prepair 500+ v1.79 ARSB Zornitza Stark Marked gene: ARSB as ready
Prepair 500+ v1.79 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Prepair 500+ v1.79 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3) to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200
Prepair 500+ v1.78 ARSB Zornitza Stark Publications for gene: ARSB were set to
Prepair 500+ v1.77 ARSA Zornitza Stark Marked gene: ARSA as ready
Prepair 500+ v1.77 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Prepair 500+ v1.77 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy, 250100 (3) to Metachromatic leukodystrophy, MIM# 250100
Prepair 500+ v1.76 ARSA Zornitza Stark Publications for gene: ARSA were set to
Prepair 500+ v1.75 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Prepair 500+ v1.75 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Prepair 500+ v1.75 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from Bardet-Biedl syndrome 3, 600151 (3) to Bardet-Biedl syndrome 3, MIM# 600151
Prepair 500+ v1.74 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Prepair 500+ v1.73 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Prepair 500+ v1.73 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Prepair 500+ v1.73 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from Joubert syndrome 8, 612291 (3) to Joubert syndrome 8, MIM# 612291
Prepair 500+ v1.72 ARL13B Zornitza Stark Publications for gene: ARL13B were set to
Prepair 500+ v1.71 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Prepair 500+ v1.71 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Prepair 500+ v1.71 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from Argininemia, 207800 (3) to Argininemia MIM# 207800
Prepair 500+ v1.70 ARG1 Zornitza Stark Publications for gene: ARG1 were set to
Prepair 500+ v1.69 AQP2 Zornitza Stark Marked gene: AQP2 as ready
Prepair 500+ v1.69 AQP2 Zornitza Stark Gene: aqp2 has been classified as Green List (High Evidence).
Prepair 500+ v1.69 AQP2 Zornitza Stark Phenotypes for gene: AQP2 were changed from Diabetes insipidus, nephrogenic, 125800 (3) to Diabetes insipidus, nephrogenic, type 2 MIM# 125800
Prepair 500+ v1.68 AQP2 Zornitza Stark Publications for gene: AQP2 were set to
Prepair 500+ v1.67 AP1S2 Zornitza Stark Marked gene: AP1S2 as ready
Prepair 500+ v1.67 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence).
Prepair 500+ v1.67 AP1S2 Zornitza Stark Publications for gene: AP1S2 were set to
Prepair 500+ v1.66 AMT Zornitza Stark Marked gene: AMT as ready
Prepair 500+ v1.66 AMT Zornitza Stark Gene: amt has been classified as Green List (High Evidence).
Prepair 500+ v1.66 AMT Zornitza Stark Phenotypes for gene: AMT were changed from Glycine encephalopathy, 605899 (3) to Glycine encephalopathy MIM#620398
Prepair 500+ v1.65 AMT Zornitza Stark Publications for gene: AMT were set to
Prepair 500+ v1.64 AMPD2 Zornitza Stark Marked gene: AMPD2 as ready
Prepair 500+ v1.64 AMPD2 Zornitza Stark Gene: ampd2 has been classified as Green List (High Evidence).
Prepair 500+ v1.64 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from Pontocerebellar hypoplasia, type 9, 615809 (3) to Pontocerebellar hypoplasia, type 9, MIM#615809
Prepair 500+ v1.63 AMPD2 Zornitza Stark Publications for gene: AMPD2 were set to
Prepair 500+ v1.62 ALPL Zornitza Stark Marked gene: ALPL as ready
Prepair 500+ v1.62 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Prepair 500+ v1.62 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, 241500 (3) to Hypophosphatasia, childhood (MIM#241510); Hypophosphatasia, infantile (MIM#241500)
Prepair 500+ v1.61 ALPL Zornitza Stark Publications for gene: ALPL were set to
Prepair 500+ v1.60 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Prepair 500+ v1.60 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Prepair 500+ v1.60 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from Alstrom syndrome, 203800 (3) to Alstrom syndrome, MIM# 203800
Prepair 500+ v1.59 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Prepair 500+ v1.59 ALG6 Zornitza Stark Gene: alg6 has been classified as Green List (High Evidence).
Prepair 500+ v1.59 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from Congenital disorder of glycosylation, type Ic, 603147 (3) to Congenital disorder of glycosylation, type Ic, MIM#603147
Prepair 500+ v1.58 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Prepair 500+ v1.57 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Prepair 500+ v1.57 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Prepair 500+ v1.57 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from Congenital disorder of glycosylation, type Id, 601110 (3) to Congenital disorder of glycosylation, type Id, MIM#601110
Prepair 500+ v1.56 ALG3 Zornitza Stark Publications for gene: ALG3 were set to
Prepair 500+ v1.55 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Prepair 500+ v1.55 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Prepair 500+ v1.55 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from Congenital disorder of glycosylation, type Ik, 608540 (3) to Congenital disorder of glycosylation, type Ik, MIM# 608540
Prepair 500+ v1.54 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Prepair 500+ v1.53 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Prepair 500+ v1.53 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Prepair 500+ v1.53 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from Fructose intolerance, 229600 (3) to Fructose intolerance, hereditary, MIM# 229600
Prepair 500+ v1.52 ALDOB Zornitza Stark Publications for gene: ALDOB were set to
Prepair 500+ v1.51 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Prepair 500+ v1.51 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.51 ALDH7A1 Zornitza Stark Phenotypes for gene: ALDH7A1 were changed from Epilepsy, pyridoxine-dependent, 266100 (3) to Epilepsy, early-onset, 4, vitamin B6-dependent MIM #266100
Prepair 500+ v1.50 ALDH7A1 Zornitza Stark Publications for gene: ALDH7A1 were set to
Prepair 500+ v1.49 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Prepair 500+ v1.49 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.49 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency, 271980 (3) to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Prepair 500+ v1.48 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Prepair 500+ v1.47 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Prepair 500+ v1.47 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Prepair 500+ v1.47 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome, 270200 (3) to Sjogren-Larsson syndrome (MIM#270200)
Prepair 500+ v1.46 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Prepair 500+ v1.46 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Prepair 500+ v1.46 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Spastic paraplegia 9B, autosomal recessive, 616586 (3) to Cutis laxa, autosomal recessive, type IIIA (MIM#219150); Spastic paraplegia 9B, autosomal recessive (MIM#616586)
Prepair 500+ v1.45 ALDH18A1 Zornitza Stark Publications for gene: ALDH18A1 were set to
Prepair 500+ v1.44 AK2 Zornitza Stark Marked gene: AK2 as ready
Prepair 500+ v1.44 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Prepair 500+ v1.44 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis, 267500 (3) to Reticular dysgenesis MIM# 267500
Prepair 500+ v1.43 AK2 Zornitza Stark Publications for gene: AK2 were set to
Prepair 500+ v1.42 AIPL1 Zornitza Stark Marked gene: AIPL1 as ready
Prepair 500+ v1.42 AIPL1 Zornitza Stark Gene: aipl1 has been classified as Green List (High Evidence).
Prepair 500+ v1.42 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from Cone-rod dystrophy, 604393 (3) to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393
Prepair 500+ v1.41 AIPL1 Zornitza Stark Publications for gene: AIPL1 were set to
Prepair 500+ v1.40 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Prepair 500+ v1.40 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Prepair 500+ v1.40 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from Cowchock syndrome, 310490 (3) to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232
Prepair 500+ v1.39 AIFM1 Zornitza Stark Publications for gene: AIFM1 were set to
Prepair 500+ v1.38 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Prepair 500+ v1.38 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Prepair 500+ v1.38 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from Joubert syndrome-3, 608629 (3) to Joubert syndrome 3 MIM#608629
Prepair 500+ v1.37 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Prepair 500+ v1.36 AGXT Zornitza Stark Marked gene: AGXT as ready
Prepair 500+ v1.36 AGXT Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
Prepair 500+ v1.36 AGXT Zornitza Stark Phenotypes for gene: AGXT were changed from Hyperoxaluria, primary, type 1, 259900 (3) to Hyperoxaluria, primary, type 1 MIM #259900
Prepair 500+ v1.35 AGXT Zornitza Stark Publications for gene: AGXT were set to
Prepair 500+ v1.34 AGPS Zornitza Stark Marked gene: AGPS as ready
Prepair 500+ v1.34 AGPS Zornitza Stark Gene: agps has been classified as Green List (High Evidence).
Prepair 500+ v1.34 AGPS Zornitza Stark Phenotypes for gene: AGPS were changed from Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) to Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121
Prepair 500+ v1.33 AGPS Zornitza Stark Publications for gene: AGPS were set to
Prepair 500+ v1.32 AGL Zornitza Stark Marked gene: AGL as ready
Prepair 500+ v1.32 AGL Zornitza Stark Gene: agl has been classified as Green List (High Evidence).
Prepair 500+ v1.32 AGL Zornitza Stark Phenotypes for gene: AGL were changed from Glycogen storage disease IIIa, 232400 (3) to Glycogen storage disease IIIa and IIIb, MIM#232400
Prepair 500+ v1.31 AGL Zornitza Stark Publications for gene: AGL were set to
Prepair 500+ v1.30 AGK Zornitza Stark Marked gene: AGK as ready
Prepair 500+ v1.30 AGK Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
Prepair 500+ v1.30 AGK Zornitza Stark Phenotypes for gene: AGK were changed from Sengers syndrome, 212350 (3) to Sengers syndrome, MIM#212350
Prepair 500+ v1.29 AGA Zornitza Stark Marked gene: AGA as ready
Prepair 500+ v1.29 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Prepair 500+ v1.29 AGA Zornitza Stark Phenotypes for gene: AGA were changed from Aspartylglucosaminuria, 208400 (3) to Aspartylglucosaminuria, MIM# 208400, MONDO:0008830
Prepair 500+ v1.28 AGA Zornitza Stark Publications for gene: AGA were set to
Prepair 500+ v1.27 ADSL Zornitza Stark Marked gene: ADSL as ready
Prepair 500+ v1.27 ADSL Zornitza Stark Gene: adsl has been classified as Green List (High Evidence).
Prepair 500+ v1.27 ADSL Zornitza Stark Phenotypes for gene: ADSL were changed from Adenylosuccinase deficiency, 103050 (3) to Adenylosuccinase deficiency MIM#103050
Prepair 500+ v1.26 ADSL Zornitza Stark Publications for gene: ADSL were set to
Prepair 500+ v1.25 ADGRV1 Zornitza Stark Marked gene: ADGRV1 as ready
Prepair 500+ v1.25 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
Prepair 500+ v1.25 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from Usher syndrome, type 2C, 605472 (3) to Usher syndrome, type 2C, MIM# 605472
Prepair 500+ v1.24 ADGRV1 Zornitza Stark Publications for gene: ADGRV1 were set to
Prepair 500+ v1.23 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Prepair 500+ v1.23 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Prepair 500+ v1.23 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from Polymicrogyria, bilateral frontoparietal, 606854 (3) to Polymicrogyria, bilateral frontoparietal, MIM#606854
Prepair 500+ v1.22 ADGRG1 Zornitza Stark Publications for gene: ADGRG1 were set to
Prepair 500+ v1.21 ADAR Zornitza Stark Marked gene: ADAR as ready
Prepair 500+ v1.21 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Prepair 500+ v1.21 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010 (3) to Aicardi-Goutieres syndrome 6, MIM#615010
Prepair 500+ v1.20 ADAMTS2 Zornitza Stark Marked gene: ADAMTS2 as ready
Prepair 500+ v1.20 ADAMTS2 Zornitza Stark Gene: adamts2 has been classified as Green List (High Evidence).
Prepair 500+ v1.20 ADAMTS2 Zornitza Stark Phenotypes for gene: ADAMTS2 were changed from Ehlers-Danlos syndrome, type VIIC, 225410 (3) to Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)
Prepair 500+ v1.19 ADAMTS2 Zornitza Stark Publications for gene: ADAMTS2 were set to
Prepair 500+ v1.18 ADA Zornitza Stark Marked gene: ADA as ready
Prepair 500+ v1.18 ADA Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
Prepair 500+ v1.18 ADA Zornitza Stark Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency, partial, 102700 (3) to Severe combined immunodeficiency due to ADA deficiency MIM#102700; Adenosine deaminase deficiency, partial MIM#102700
Prepair 500+ v1.17 ADA Zornitza Stark Publications for gene: ADA were set to
Prepair 500+ v1.16 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Prepair 500+ v1.16 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Prepair 500+ v1.16 ACOX1 Zornitza Stark Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) to Peroxisomal acyl-CoA oxidase deficiency, MIM#264470
Prepair 500+ v1.15 ACOX1 Zornitza Stark Publications for gene: ACOX1 were set to
Prepair 500+ v1.14 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Prepair 500+ v1.14 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Prepair 500+ v1.14 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, 203750 (3) to Alpha-methylacetoacetic aciduria, MIM#203750
Prepair 500+ v1.13 ACAT1 Zornitza Stark Publications for gene: ACAT1 were set to
Prepair 500+ v1.12 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Prepair 500+ v1.12 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Prepair 500+ v1.12 ACADVL Zornitza Stark Phenotypes for gene: ACADVL were changed from VLCAD deficiency, 201475 (3) to VLCAD deficiency (MIM#201475)
Prepair 500+ v1.11 ACADM Zornitza Stark Marked gene: ACADM as ready
Prepair 500+ v1.11 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Prepair 500+ v1.11 ACADM Zornitza Stark Publications for gene: ACADM were set to
Prepair 500+ v1.10 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Prepair 500+ v1.10 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Prepair 500+ v1.10 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) to Mitochondrial complex I deficiency, nuclear type 20 (MIM#611126)
Prepair 500+ v1.9 ACAD9 Zornitza Stark Publications for gene: ACAD9 were set to
Prepair 500+ v1.8 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Prepair 500+ v1.8 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Prepair 500+ v1.8 ABCC8 Zornitza Stark Marked gene: ABCC8 as ready
Prepair 500+ v1.8 ABCC8 Zornitza Stark Gene: abcc8 has been classified as Green List (High Evidence).
Prepair 500+ v1.8 ABCB4 Zornitza Stark Marked gene: ABCB4 as ready
Prepair 500+ v1.8 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Green List (High Evidence).
Prepair 500+ v1.8 ABCB11 Zornitza Stark Marked gene: ABCB11 as ready
Prepair 500+ v1.8 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Green List (High Evidence).
Prepair 500+ v1.8 ABCA3 Zornitza Stark Marked gene: ABCA3 as ready
Prepair 500+ v1.8 ABCA3 Zornitza Stark Gene: abca3 has been classified as Green List (High Evidence).
Prepair 500+ v1.8 ABCA12 Zornitza Stark Marked gene: ABCA12 as ready
Prepair 500+ v1.8 ABCA12 Zornitza Stark Gene: abca12 has been classified as Green List (High Evidence).
Prepair 500+ v1.8 AARS2 Zornitza Stark Marked gene: AARS2 as ready
Prepair 500+ v1.8 AARS2 Zornitza Stark Gene: aars2 has been classified as Green List (High Evidence).
Prepair 500+ v1.8 AAAS Zornitza Stark Marked gene: AAAS as ready
Prepair 500+ v1.8 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Prepair 500+ v1.7 OSGEP Zornitza Stark Marked gene: OSGEP as ready
Prepair 500+ v1.7 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Prepair 500+ v1.7 OSGEP Zornitza Stark Phenotypes for gene: OSGEP were changed from Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive to Galloway-Mowat syndrome 3, MIM# 617729
Prepair 500+ v1.6 OSGEP Zornitza Stark Publications for gene: OSGEP were set to
Prepair 500+ v1.5 OSGEP Melanie Marty reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 28272532; Phenotypes: Galloway-Mowat syndrome 3, MIM# 617729; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 500+ v1.5 PIGG Ain Roesley Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, 616917 (3) to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917
Prepair 500+ v1.4 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340 (3) to Pettigrew syndrome, MIM# 304340
Prepair 500+ v1.3 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, 300919 (3) to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Prepair 500+ v1.2 IL7R Ain Roesley Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) to severe combined immunodeficiency 104 MIM#608971
Prepair 500+ v1.1 SPATA5 Zornitza Stark Tag new gene name tag was added to gene: SPATA5.
Prepair 500+ v1.1 IQSEC2 Ain Roesley Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1, 309530 (3) to Intellectual developmental disorder, X-linked 1 MIM#309530
Prepair 500+ v1.0 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 500+ v1.0 Seb Lunke promoted panel to version 1.0
Prepair 500+ v0.1 Seb Lunke Panel status changed from internal to public
Panel types changed to Victorian Clinical Genetics Services
Prepair 500+ v0.0 ZNF711 Seb Lunke gene: ZNF711 was added
gene: ZNF711 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF711 were set to Mental retardation, X-linked 97, 300803 (3)
Prepair 500+ v0.0 ZFYVE26 Seb Lunke gene: ZFYVE26 was added
gene: ZFYVE26 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, 270700 (3)
Prepair 500+ v0.0 ZDHHC9 Seb Lunke gene: ZDHHC9 was added
gene: ZDHHC9 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, 300799 (3)
Prepair 500+ v0.0 ZBTB24 Seb Lunke gene: ZBTB24 was added
gene: ZBTB24 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)
Prepair 500+ v0.0 YARS2 Seb Lunke gene: YARS2 was added
gene: YARS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)
Prepair 500+ v0.0 XPC Seb Lunke gene: XPC was added
gene: XPC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 (3)
Prepair 500+ v0.0 XPA Seb Lunke gene: XPA was added
gene: XPA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 (3)
Prepair 500+ v0.0 XIAP Seb Lunke gene: XIAP was added
gene: XIAP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, 300635 (3)
Prepair 500+ v0.0 WWOX Seb Lunke gene: WWOX was added
gene: WWOX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Epileptic encephalopathy, early infantile, 28, 616211 (3)
Prepair 500+ v0.0 WRN Seb Lunke gene: WRN was added
gene: WRN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome, 277700 (3)
Prepair 500+ v0.0 WISP3 Seb Lunke gene: WISP3 was added
gene: WISP3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Prepair 500+ v0.0 WHRN Seb Lunke gene: WHRN was added
gene: WHRN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383 (3)
Prepair 500+ v0.0 WDR81 Seb Lunke gene: WDR81 was added
gene: WDR81 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Prepair 500+ v0.0 WDR62 Seb Lunke gene: WDR62 was added
gene: WDR62 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
Prepair 500+ v0.0 WDR34 Seb Lunke gene: WDR34 was added
gene: WDR34 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
Prepair 500+ v0.0 WAS Seb Lunke gene: WAS was added
gene: WAS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, 301000 (3)
Prepair 500+ v0.0 VSX2 Seb Lunke gene: VSX2 was added
gene: VSX2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092 (3)
Prepair 500+ v0.0 VRK1 Seb Lunke gene: VRK1 was added
gene: VRK1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596 (3)
Prepair 500+ v0.0 VPS53 Seb Lunke gene: VPS53 was added
gene: VPS53 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia, type 2E, 615851 (3)
Prepair 500+ v0.0 VPS45 Seb Lunke gene: VPS45 was added
gene: VPS45 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)
Prepair 500+ v0.0 VPS13B Seb Lunke gene: VPS13B was added
gene: VPS13B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome, 216550 (3)
Prepair 500+ v0.0 VPS11 Seb Lunke gene: VPS11 was added
gene: VPS11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 27473128; 26307567; 27120463
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
Prepair 500+ v0.0 VLDLR Seb Lunke gene: VLDLR was added
gene: VLDLR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
Prepair 500+ v0.0 USP9X Seb Lunke gene: USP9X was added
gene: USP9X was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, 300919 (3)
Prepair 500+ v0.0 USH2A Seb Lunke gene: USH2A was added
gene: USH2A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901 (3)
Prepair 500+ v0.0 USH1G Seb Lunke gene: USH1G was added
gene: USH1G was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943 (3)
Prepair 500+ v0.0 USH1C Seb Lunke gene: USH1C was added
gene: USH1C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904 (3)
Prepair 500+ v0.0 UPF3B Seb Lunke gene: UPF3B was added
gene: UPF3B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UPF3B were set to Mental retardation, X-linked, syndromic 14, 300676 (3)
Prepair 500+ v0.0 UNC13D Seb Lunke gene: UNC13D was added
gene: UNC13D was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
Prepair 500+ v0.0 UGT1A1 Seb Lunke gene: UGT1A1 was added
gene: UGT1A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I, 218800 (3)
Prepair 500+ v0.0 UBR1 Seb Lunke gene: UBR1 was added
gene: UBR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, 243800 (3)
Prepair 500+ v0.0 UBE2T Seb Lunke gene: UBE2T was added
gene: UBE2T was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, 616435 (3)
Prepair 500+ v0.0 UBA5 Seb Lunke gene: UBA5 was added
gene: UBA5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive
Prepair 500+ v0.0 TYRP1 Seb Lunke gene: TYRP1 was added
gene: TYRP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III, 203290 (3)
Prepair 500+ v0.0 TYR Seb Lunke gene: TYR was added
gene: TYR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA, 203100 (3)
Prepair 500+ v0.0 TYMP Seb Lunke gene: TYMP was added
gene: TYMP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
Prepair 500+ v0.0 TWNK Seb Lunke gene: TWNK was added
gene: TWNK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)
Prepair 500+ v0.0 TULP1 Seb Lunke gene: TULP1 was added
gene: TULP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14, 600132 (3)
Prepair 500+ v0.0 TTPA Seb Lunke gene: TTPA was added
gene: TTPA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, 277460 (3)
Prepair 500+ v0.0 TTC8 Seb Lunke gene: TTC8 was added
gene: TTC8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985 (3)
Prepair 500+ v0.0 TTC7A Seb Lunke gene: TTC7A was added
gene: TTC7A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)
Prepair 500+ v0.0 TTC37 Seb Lunke gene: TTC37 was added
gene: TTC37 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, 222470 (3)
Prepair 500+ v0.0 TSHB Seb Lunke gene: TSHB was added
gene: TSHB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4, 275100 (3)
Prepair 500+ v0.0 TSFM Seb Lunke gene: TSFM was added
gene: TSFM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505 (3)
Prepair 500+ v0.0 TSEN54 Seb Lunke gene: TSEN54 was added
gene: TSEN54 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2A, 277470 (3)
Prepair 500+ v0.0 TSEN2 Seb Lunke gene: TSEN2 was added
gene: TSEN2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389 (3)
Prepair 500+ v0.0 TRPM6 Seb Lunke gene: TRPM6 was added
gene: TRPM6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, 602014 (3)
Prepair 500+ v0.0 TRMU Seb Lunke gene: TRMU was added
gene: TRMU was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to Liver failure, transient infantile, 613070 (3)
Prepair 500+ v0.0 TRIM37 Seb Lunke gene: TRIM37 was added
gene: TRIM37 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism, 253250 (3)
Prepair 500+ v0.0 TRIM32 Seb Lunke gene: TRIM32 was added
gene: TRIM32 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110 (3)
Prepair 500+ v0.0 TREX1 Seb Lunke gene: TREX1 was added
gene: TREX1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)
Prepair 500+ v0.0 TRDN Seb Lunke gene: TRDN was added
gene: TRDN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
Prepair 500+ v0.0 TPP1 Seb Lunke gene: TPP1 was added
gene: TPP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Prepair 500+ v0.0 TOE1 Seb Lunke gene: TOE1 was added
gene: TOE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive
Prepair 500+ v0.0 TMTC3 Seb Lunke gene: TMTC3 was added
gene: TMTC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMTC3 were set to Lissencephaly 8, 617255 (3), Autosomal recessive
Prepair 500+ v0.0 TMEM67 Seb Lunke gene: TMEM67 was added
gene: TMEM67 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6, 610688 (3)
Prepair 500+ v0.0 TMEM237 Seb Lunke gene: TMEM237 was added
gene: TMEM237 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome 14, 614424 (3)
Prepair 500+ v0.0 TMEM231 Seb Lunke gene: TMEM231 was added
gene: TMEM231 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20, 614970 (3)
Prepair 500+ v0.0 TMEM216 Seb Lunke gene: TMEM216 was added
gene: TMEM216 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome 2, 608091 (3)
Prepair 500+ v0.0 TMEM138 Seb Lunke gene: TMEM138 was added
gene: TMEM138 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16, 614465 (3)
Prepair 500+ v0.0 TK2 Seb Lunke gene: TK2 was added
gene: TK2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
Prepair 500+ v0.0 THOC2 Seb Lunke gene: THOC2 was added
gene: THOC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: THOC2 were set to Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive
Prepair 500+ v0.0 TH Seb Lunke gene: TH was added
gene: TH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Segawa syndrome, recessive, MIM# 605407
Prepair 500+ v0.0 TGM1 Seb Lunke gene: TGM1 was added
gene: TGM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
Prepair 500+ v0.0 TF Seb Lunke gene: TF was added
gene: TF was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TF were set to Atransferrinemia, 209300 (3)
Prepair 500+ v0.0 TELO2 Seb Lunke gene: TELO2 was added
gene: TELO2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive
Prepair 500+ v0.0 TECPR2 Seb Lunke gene: TECPR2 was added
gene: TECPR2 was added to Prepair 500+. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 23176824; 35130874; 26542466
Phenotypes for gene: TECPR2 were set to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031
Prepair 500+ v0.0 TCTN3 Seb Lunke gene: TCTN3 was added
gene: TCTN3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome 18, 614815 (3)
Prepair 500+ v0.0 TCTN2 Seb Lunke gene: TCTN2 was added
gene: TCTN2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Joubert syndrome 24
Prepair 500+ v0.0 TCN2 Seb Lunke gene: TCN2 was added
gene: TCN2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350 (3)
Prepair 500+ v0.0 TCIRG1 Seb Lunke gene: TCIRG1 was added
gene: TCIRG1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, 259700 (3)
Prepair 500+ v0.0 TBCE Seb Lunke gene: TBCE was added
gene: TBCE was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Kenny-Caffey syndrome-1, 244460 (3)
Prepair 500+ v0.0 TBCD Seb Lunke gene: TBCD was added
gene: TBCD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive
Prepair 500+ v0.0 TBC1D24 Seb Lunke gene: TBC1D24 was added
gene: TBC1D24 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16, 615338 (3)
Prepair 500+ v0.0 TBC1D23 Seb Lunke gene: TBC1D23 was added
gene: TBC1D23 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive
Prepair 500+ v0.0 TAZ Seb Lunke gene: TAZ was added
gene: TAZ was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome, 302060 (3)
Prepair 500+ v0.0 TAT Seb Lunke gene: TAT was added
gene: TAT was added to Prepair 500+. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAT were set to 16574453
Phenotypes for gene: TAT were set to Tyrosinemia, type II (MIM#276600)
Prepair 500+ v0.0 TANGO2 Seb Lunke gene: TANGO2 was added
gene: TANGO2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Prepair 500+ v0.0 SYN1 Seb Lunke gene: SYN1 was added
gene: SYN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
Prepair 500+ v0.0 SURF1 Seb Lunke gene: SURF1 was added
gene: SURF1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency, 256000 (3)
Prepair 500+ v0.0 SUOX Seb Lunke gene: SUOX was added
gene: SUOX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, 272300 (3)
Prepair 500+ v0.0 SUMF1 Seb Lunke gene: SUMF1 was added
gene: SUMF1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, 272200 (3)
Prepair 500+ v0.0 STXBP2 Seb Lunke gene: STXBP2 was added
gene: STXBP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
Prepair 500+ v0.0 STX11 Seb Lunke gene: STX11 was added
gene: STX11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)
Prepair 500+ v0.0 STAR Seb Lunke gene: STAR was added
gene: STAR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to Lipoid adrenal hyperplasia, 201710 (3)
Prepair 500+ v0.0 ST3GAL5 Seb Lunke gene: ST3GAL5 was added
gene: ST3GAL5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive
Prepair 500+ v0.0 SPR Seb Lunke gene: SPR was added
gene: SPR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)
Prepair 500+ v0.0 SPINK5 Seb Lunke gene: SPINK5 was added
gene: SPINK5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton syndrome, 256500 (3)
Prepair 500+ v0.0 SPG11 Seb Lunke gene: SPG11 was added
gene: SPG11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 33581793
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM# 604360
Prepair 500+ v0.0 SPATA5 Seb Lunke gene: SPATA5 was added
gene: SPATA5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive
Prepair 500+ v0.0 SNAP29 Seb Lunke gene: SNAP29 was added
gene: SNAP29 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
Prepair 500+ v0.0 SMPD1 Seb Lunke gene: SMPD1 was added
gene: SMPD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, 257200 (3)
Prepair 500+ v0.0 SMN1 Seb Lunke gene: SMN1 was added
gene: SMN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, 253300 (3)
Prepair 500+ v0.0 SMARCAL1 Seb Lunke gene: SMARCAL1 was added
gene: SMARCAL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia, 242900 (3)
Prepair 500+ v0.0 SLC7A7 Seb Lunke gene: SLC7A7 was added
gene: SLC7A7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700 (3)
Prepair 500+ v0.0 SLC6A8 Seb Lunke gene: SLC6A8 was added
gene: SLC6A8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3)
Prepair 500+ v0.0 SLC6A5 Seb Lunke gene: SLC6A5 was added
gene: SLC6A5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3)
Prepair 500+ v0.0 SLC52A3 Seb Lunke gene: SLC52A3 was added
gene: SLC52A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
Prepair 500+ v0.0 SLC52A2 Seb Lunke gene: SLC52A2 was added
gene: SLC52A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
Prepair 500+ v0.0 SLC46A1 Seb Lunke gene: SLC46A1 was added
gene: SLC46A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, 229050 (3)
Prepair 500+ v0.0 SLC45A2 Seb Lunke gene: SLC45A2 was added
gene: SLC45A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Albinism, oculocutaneous, type IV, 606574 (3)
Prepair 500+ v0.0 SLC39A4 Seb Lunke gene: SLC39A4 was added
gene: SLC39A4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, 201100 (3)
Prepair 500+ v0.0 SLC38A8 Seb Lunke gene: SLC38A8 was added
gene: SLC38A8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
Prepair 500+ v0.0 SLC37A4 Seb Lunke gene: SLC37A4 was added
gene: SLC37A4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, 232220 (3)
Prepair 500+ v0.0 SLC35A3 Seb Lunke gene: SLC35A3 was added
gene: SLC35A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 28777481; 24031089; 28328131
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures (MIM615553)
Prepair 500+ v0.0 SLC26A3 Seb Lunke gene: SLC26A3 was added
gene: SLC26A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Diarrhea 1, secretory chloride, congenital, 214700 (3)
Prepair 500+ v0.0 SLC26A2 Seb Lunke gene: SLC26A2 was added
gene: SLC26A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, 600972 (3)
Prepair 500+ v0.0 SLC25A15 Seb Lunke gene: SLC25A15 was added
gene: SLC25A15 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
Prepair 500+ v0.0 SLC25A13 Seb Lunke gene: SLC25A13 was added
gene: SLC25A13 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, 605814 (3)
Prepair 500+ v0.0 SLC25A1 Seb Lunke gene: SLC25A1 was added
gene: SLC25A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
Prepair 500+ v0.0 SLC22A5 Seb Lunke gene: SLC22A5 was added
gene: SLC22A5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140 (3)
Prepair 500+ v0.0 SLC1A4 Seb Lunke gene: SLC1A4 was added
gene: SLC1A4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)
Prepair 500+ v0.0 SLC19A3 Seb Lunke gene: SLC19A3 was added
gene: SLC19A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
Prepair 500+ v0.0 SLC19A2 Seb Lunke gene: SLC19A2 was added
gene: SLC19A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
Prepair 500+ v0.0 SLC17A5 Seb Lunke gene: SLC17A5 was added
gene: SLC17A5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile, 269920 (3)
Prepair 500+ v0.0 SLC16A2 Seb Lunke gene: SLC16A2 was added
gene: SLC16A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome
Prepair 500+ v0.0 SLC12A6 Seb Lunke gene: SLC12A6 was added
gene: SLC12A6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
Prepair 500+ v0.0 SLC12A1 Seb Lunke gene: SLC12A1 was added
gene: SLC12A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, 601678 (3)
Prepair 500+ v0.0 SKIV2L Seb Lunke gene: SKIV2L was added
gene: SKIV2L was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, 614602 (3)
Prepair 500+ v0.0 SH3TC2 Seb Lunke gene: SH3TC2 was added
gene: SH3TC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Prepair 500+ v0.0 SGSH Seb Lunke gene: SGSH was added
gene: SGSH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)
Prepair 500+ v0.0 SGCG Seb Lunke gene: SGCG was added
gene: SGCG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
Prepair 500+ v0.0 SGCD Seb Lunke gene: SGCD was added
gene: SGCD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287 (3)
Prepair 500+ v0.0 SGCB Seb Lunke gene: SGCB was added
gene: SGCB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286 (3)
Prepair 500+ v0.0 SGCA Seb Lunke gene: SGCA was added
gene: SGCA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099 (3)
Prepair 500+ v0.0 SERPINH1 Seb Lunke gene: SERPINH1 was added
gene: SERPINH1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINH1 were set to Orofaciodigital syndrome VI, 277170 (3)
Prepair 500+ v0.0 SERAC1 Seb Lunke gene: SERAC1 was added
gene: SERAC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
Prepair 500+ v0.0 SEPSECS Seb Lunke gene: SEPSECS was added
gene: SEPSECS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811 (3)
Prepair 500+ v0.0 SEC23B Seb Lunke gene: SEC23B was added
gene: SEC23B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II, 224100 (3)
Prepair 500+ v0.0 SDCCAG8 Seb Lunke gene: SDCCAG8 was added
gene: SDCCAG8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993 (3)
Prepair 500+ v0.0 SCO2 Seb Lunke gene: SCO2 was added
gene: SCO2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Prepair 500+ v0.0 SC5D Seb Lunke gene: SC5D was added
gene: SC5D was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3)
Prepair 500+ v0.0 SAMHD1 Seb Lunke gene: SAMHD1 was added
gene: SAMHD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952 (3)
Prepair 500+ v0.0 SACS Seb Lunke gene: SACS was added
gene: SACS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
Prepair 500+ v0.0 RYR1 Seb Lunke gene: RYR1 was added
gene: RYR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RYR1 were set to PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725
Phenotypes for gene: RYR1 were set to Central core disease, MIM# 117000; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000
Prepair 500+ v0.0 RTEL1 Seb Lunke gene: RTEL1 was added
gene: RTEL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Prepair 500+ v0.0 RPS6KA3 Seb Lunke gene: RPS6KA3 was added
gene: RPS6KA3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome
Prepair 500+ v0.0 RPGRIP1L Seb Lunke gene: RPGRIP1L was added
gene: RPGRIP1L was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5, 611561 (3)
Prepair 500+ v0.0 RPE65 Seb Lunke gene: RPE65 was added
gene: RPE65 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Leber congenital amaurosis 2, 204100 (3)
Prepair 500+ v0.0 RP2 Seb Lunke gene: RP2 was added
gene: RP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3)
Prepair 500+ v0.0 RNASEH2C Seb Lunke gene: RNASEH2C was added
gene: RNASEH2C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, 610329 (3)
Prepair 500+ v0.0 RNASEH2B Seb Lunke gene: RNASEH2B was added
gene: RNASEH2B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, 610181 (3)
Prepair 500+ v0.0 RNASEH2A Seb Lunke gene: RNASEH2A was added
gene: RNASEH2A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, 610333 (3)
Prepair 500+ v0.0 RMRP Seb Lunke gene: RMRP was added
gene: RMRP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, 250250 (3)
Prepair 500+ v0.0 RMND1 Seb Lunke gene: RMND1 was added
gene: RMND1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, 614922 (3)
Prepair 500+ v0.0 RDH12 Seb Lunke gene: RDH12 was added
gene: RDH12 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712 (3)
Prepair 500+ v0.0 RBBP8 Seb Lunke gene: RBBP8 was added
gene: RBBP8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBBP8 were set to Seckel syndrome 2, 606744 (3)
Prepair 500+ v0.0 RAX Seb Lunke gene: RAX was added
gene: RAX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to Microphthalmia, isolated 3, 611038 (3)
Prepair 500+ v0.0 RARS2 Seb Lunke gene: RARS2 was added
gene: RARS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523 (3)
Prepair 500+ v0.0 RAPSN Seb Lunke gene: RAPSN was added
gene: RAPSN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Fetal akinesia deformation sequence, 208150 (3)
Prepair 500+ v0.0 RAG2 Seb Lunke gene: RAG2 was added
gene: RAG2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAG2 were set to 26996199; 30046960
Phenotypes for gene: RAG2 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)
Prepair 500+ v0.0 RAG1 Seb Lunke gene: RAG1 was added
gene: RAG1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG1 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)
Prepair 500+ v0.0 RAB3GAP2 Seb Lunke gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, 614225 (3)
Prepair 500+ v0.0 RAB3GAP1 Seb Lunke gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118 (3)
Prepair 500+ v0.0 RAB23 Seb Lunke gene: RAB23 was added
gene: RAB23 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome, 201000 (3)
Prepair 500+ v0.0 RAB18 Seb Lunke gene: RAB18 was added
gene: RAB18 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to Warburg micro syndrome 3, 614222 (3)
Prepair 500+ v0.0 QDPR Seb Lunke gene: QDPR was added
gene: QDPR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
Prepair 500+ v0.0 PUS1 Seb Lunke gene: PUS1 was added
gene: PUS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)
Prepair 500+ v0.0 PTS Seb Lunke gene: PTS was added
gene: PTS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)
Prepair 500+ v0.0 PSAP Seb Lunke gene: PSAP was added
gene: PSAP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
Prepair 500+ v0.0 PRPS1 Seb Lunke gene: PRPS1 was added
gene: PRPS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Arts syndrome, 301835 (3)
Prepair 500+ v0.0 PROP1 Seb Lunke gene: PROP1 was added
gene: PROP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, 262600 (3)
Prepair 500+ v0.0 PRF1 Seb Lunke gene: PRF1 was added
gene: PRF1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Prepair 500+ v0.0 PRDM5 Seb Lunke gene: PRDM5 was added
gene: PRDM5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170 (3)
Prepair 500+ v0.0 PQBP1 Seb Lunke gene: PQBP1 was added
gene: PQBP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (3)
Prepair 500+ v0.0 PPT1 Seb Lunke gene: PPT1 was added
gene: PPT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
Prepair 500+ v0.0 POU1F1 Seb Lunke gene: POU1F1 was added
gene: POU1F1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1, 613038 (3)
Prepair 500+ v0.0 POR Seb Lunke gene: POR was added
gene: POR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Prepair 500+ v0.0 POMT2 Seb Lunke gene: POMT2 was added
gene: POMT2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Prepair 500+ v0.0 POMT1 Seb Lunke gene: POMT1 was added
gene: POMT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Prepair 500+ v0.0 POMGNT1 Seb Lunke gene: POMGNT1 was added
gene: POMGNT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Prepair 500+ v0.0 POLR3B Seb Lunke gene: POLR3B was added
gene: POLR3B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
Prepair 500+ v0.0 POLR1C Seb Lunke gene: POLR1C was added
gene: POLR1C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Treacher Collins syndrome 3, 248390 (3)
Prepair 500+ v0.0 POLG Seb Lunke gene: POLG was added
gene: POLG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
Prepair 500+ v0.0 PNPO Seb Lunke gene: PNPO was added
gene: PNPO was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPO were set to Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
Prepair 500+ v0.0 PNKP Seb Lunke gene: PNKP was added
gene: PNKP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Microcephaly, seizures, and developmental delay, 613402 (3)
Prepair 500+ v0.0 PMM2 Seb Lunke gene: PMM2 was added
gene: PMM2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia, 212065 (3)
Prepair 500+ v0.0 PLPBP Seb Lunke gene: PLPBP was added
gene: PLPBP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive
Prepair 500+ v0.0 PLP1 Seb Lunke gene: PLP1 was added
gene: PLP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080 (3)
Prepair 500+ v0.0 PLOD1 Seb Lunke gene: PLOD1 was added
gene: PLOD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, type VI, 225400 (3)
Prepair 500+ v0.0 PLA2G6 Seb Lunke gene: PLA2G6 was added
gene: PLA2G6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 35803092
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B MIM#610217; Infantile neuroaxonal dystrophy 1 MIM#256600
Prepair 500+ v0.0 PKHD1 Seb Lunke gene: PKHD1 was added
gene: PKHD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease, 263200 (3)
Prepair 500+ v0.0 PIGT Seb Lunke gene: PIGT was added
gene: PIGT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3
Prepair 500+ v0.0 PIGN Seb Lunke gene: PIGN was added
gene: PIGN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
Prepair 500+ v0.0 PIGG Seb Lunke gene: PIGG was added
gene: PIGG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGG were set to Mental retardation, autosomal recessive 53, 616917 (3)
Prepair 500+ v0.0 PIBF1 Seb Lunke gene: PIBF1 was added
gene: PIBF1 was added to Prepair 500+. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797; 33004012
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33 (MIM#617767)
Prepair 500+ v0.0 PHYH Seb Lunke gene: PHYH was added
gene: PHYH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease, 266500 (3)
Prepair 500+ v0.0 PHGDH Seb Lunke gene: PHGDH was added
gene: PHGDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome1, 256520 (3)
Prepair 500+ v0.0 PHF8 Seb Lunke gene: PHF8 was added
gene: PHF8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF8 were set to Mental retardation syndrome, X-linked, Siderius type, 300263 (3)
Prepair 500+ v0.0 PGM3 Seb Lunke gene: PGM3 was added
gene: PGM3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM3 were set to Immunodeficiency 23, 615816 (3)
Prepair 500+ v0.0 PGM1 Seb Lunke gene: PGM1 was added
gene: PGM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, 614921 (3)
Prepair 500+ v0.0 PGK1 Seb Lunke gene: PGK1 was added
gene: PGK1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PGK1 were set to 28580215; 16567715; 22348148; 30887539
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3)
Prepair 500+ v0.0 PGAP2 Seb Lunke gene: PGAP2 was added
gene: PGAP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)
Prepair 500+ v0.0 PFKM Seb Lunke gene: PFKM was added
gene: PFKM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII, 232800 (3)
Prepair 500+ v0.0 PEX7 Seb Lunke gene: PEX7 was added
gene: PEX7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)
Prepair 500+ v0.0 PEX6 Seb Lunke gene: PEX6 was added
gene: PEX6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862
Prepair 500+ v0.0 PEX5 Seb Lunke gene: PEX5 was added
gene: PEX5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110
Prepair 500+ v0.0 PEX26 Seb Lunke gene: PEX26 was added
gene: PEX26 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872
Prepair 500+ v0.0 PEX2 Seb Lunke gene: PEX2 was added
gene: PEX2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866
Prepair 500+ v0.0 PEX16 Seb Lunke gene: PEX16 was added
gene: PEX16 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger), 614876
Prepair 500+ v0.0 PEX13 Seb Lunke gene: PEX13 was added
gene: PEX13 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger), 614883
Prepair 500+ v0.0 PEX12 Seb Lunke gene: PEX12 was added
gene: PEX12 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859
Prepair 500+ v0.0 PEX10 Seb Lunke gene: PEX10 was added
gene: PEX10 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870
Prepair 500+ v0.0 PEX1 Seb Lunke gene: PEX1 was added
gene: PEX1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100
Prepair 500+ v0.0 PET100 Seb Lunke gene: PET100 was added
gene: PET100 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 (3)
Prepair 500+ v0.0 PEPD Seb Lunke gene: PEPD was added
gene: PEPD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEPD were set to Prolidase deficiency, 170100 (3)
Prepair 500+ v0.0 PDHB Seb Lunke gene: PDHB was added
gene: PDHB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
Prepair 500+ v0.0 PDHA1 Seb Lunke gene: PDHA1 was added
gene: PDHA1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PDHA1 were set to 28584645; 22142326
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)
Prepair 500+ v0.0 PCNT Seb Lunke gene: PCNT was added
gene: PCNT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
Prepair 500+ v0.0 PCDH19 Seb Lunke gene: PCDH19 was added
gene: PCDH19 was added to Prepair 500+. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PCDH19 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PCDH19 were set to 18469813; 30287595
Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088)
Prepair 500+ v0.0 PCDH15 Seb Lunke gene: PCDH15 was added
gene: PCDH15 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome, type 1F, 602083 (3)
Prepair 500+ v0.0 PCCB Seb Lunke gene: PCCB was added
gene: PCCB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia, 606054 (3)
Prepair 500+ v0.0 PCCA Seb Lunke gene: PCCA was added
gene: PCCA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionicacidemia, 606054 (3)
Prepair 500+ v0.0 PC Seb Lunke gene: PC was added
gene: PC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 (3)
Prepair 500+ v0.0 PANK2 Seb Lunke gene: PANK2 was added
gene: PANK2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 15911822
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, MIM#234200
Prepair 500+ v0.0 PAK3 Seb Lunke gene: PAK3 was added
gene: PAK3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PAK3 were set to Mental retardation, X-linked 30/47, 300558 (3)
Prepair 500+ v0.0 PAH Seb Lunke gene: PAH was added
gene: PAH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to Phenylketonuria, 261600 (3)
Prepair 500+ v0.0 P3H1 Seb Lunke gene: P3H1 was added
gene: P3H1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, 610915 (3)
Prepair 500+ v0.0 OTC Seb Lunke gene: OTC was added
gene: OTC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 (3)
Prepair 500+ v0.0 OSTM1 Seb Lunke gene: OSTM1 was added
gene: OSTM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5, 259720 (3)
Prepair 500+ v0.0 OSGEP Seb Lunke gene: OSGEP was added
gene: OSGEP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive
Prepair 500+ v0.0 OPHN1 Seb Lunke gene: OPHN1 was added
gene: OPHN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
Prepair 500+ v0.0 OPA3 Seb Lunke gene: OPA3 was added
gene: OPA3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501 (3)
Prepair 500+ v0.0 OPA1 Seb Lunke gene: OPA1 was added
gene: OPA1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Behr syndrome, 210000 (3), Autosomal recessive
Prepair 500+ v0.0 OFD1 Seb Lunke gene: OFD1 was added
gene: OFD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3)
Prepair 500+ v0.0 OCRL Seb Lunke gene: OCRL was added
gene: OCRL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3)
Prepair 500+ v0.0 NTRK1 Seb Lunke gene: NTRK1 was added
gene: NTRK1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Prepair 500+ v0.0 NR0B1 Seb Lunke gene: NR0B1 was added
gene: NR0B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive, 300018 (3)
Prepair 500+ v0.0 NPHS2 Seb Lunke gene: NPHS2 was added
gene: NPHS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS2 were set to Nephrotic syndrome, type 2, 600995 (3)
Prepair 500+ v0.0 NPHS1 Seb Lunke gene: NPHS1 was added
gene: NPHS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1, 256300 (3)
Prepair 500+ v0.0 NPHP3 Seb Lunke gene: NPHP3 was added
gene: NPHP3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010 (3)
Prepair 500+ v0.0 NPHP1 Seb Lunke gene: NPHP1 was added
gene: NPHP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4, 609583 (3)
Prepair 500+ v0.0 NPC2 Seb Lunke gene: NPC2 was added
gene: NPC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC2 were set to 29625568; 17470133
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, MIM#607625
Prepair 500+ v0.0 NPC1 Seb Lunke gene: NPC1 was added
gene: NPC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 11333381; 26910362
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1, MIM#257220
Prepair 500+ v0.0 NNT Seb Lunke gene: NNT was added
gene: NNT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, 614736 (3)
Prepair 500+ v0.0 NGLY1 Seb Lunke gene: NGLY1 was added
gene: NGLY1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation, 615273 (3)
Prepair 500+ v0.0 NEU1 Seb Lunke gene: NEU1 was added
gene: NEU1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type I, 256550 (3)
Prepair 500+ v0.0 NEB Seb Lunke gene: NEB was added
gene: NEB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEB were set to 27228465
Phenotypes for gene: NEB were set to Arthrogryposis multiplex congenita 6 (MIM#619334); Nemaline myopathy 2, autosomal recessive (MIM#256030)
Prepair 500+ v0.0 NDUFV1 Seb Lunke gene: NDUFV1 was added
gene: NDUFV1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 500+ v0.0 NDUFS7 Seb Lunke gene: NDUFS7 was added
gene: NDUFS7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Leigh syndrome, 256000 (3)
Prepair 500+ v0.0 NDUFS6 Seb Lunke gene: NDUFS6 was added
gene: NDUFS6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 500+ v0.0 NDUFS4 Seb Lunke gene: NDUFS4 was added
gene: NDUFS4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000 (3)
Prepair 500+ v0.0 NDUFAF5 Seb Lunke gene: NDUFAF5 was added
gene: NDUFAF5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010 (3)
Prepair 500+ v0.0 NDUFAF2 Seb Lunke gene: NDUFAF2 was added
gene: NDUFAF2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Leigh syndrome, 256000 (3)
Prepair 500+ v0.0 NDRG1 Seb Lunke gene: NDRG1 was added
gene: NDRG1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDRG1 were set to Charcot-Marie-Tooth disease, type 4D, 601455 (3)
Prepair 500+ v0.0 NDP Seb Lunke gene: NDP was added
gene: NDP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDP were set to Norrie disease, 310600 (3)
Prepair 500+ v0.0 NDE1 Seb Lunke gene: NDE1 was added
gene: NDE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDE1 were set to Lissencephaly 4 (with microcephaly), 614019 (3)
Prepair 500+ v0.0 NCF2 Seb Lunke gene: NCF2 was added
gene: NCF2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
Prepair 500+ v0.0 NBN Seb Lunke gene: NBN was added
gene: NBN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260 (3)
Prepair 500+ v0.0 NARS2 Seb Lunke gene: NARS2 was added
gene: NARS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NARS2 were set to Combined oxidative phosphorylation deficiency 24, 616239 (3)
Prepair 500+ v0.0 NALCN Seb Lunke gene: NALCN was added
gene: NALCN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NALCN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NALCN were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)
Prepair 500+ v0.0 NAGS Seb Lunke gene: NAGS was added
gene: NAGS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency, 237310 (3)
Prepair 500+ v0.0 NAGLU Seb Lunke gene: NAGLU was added
gene: NAGLU was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
Prepair 500+ v0.0 NAGA Seb Lunke gene: NAGA was added
gene: NAGA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to Schindler disease, type I, 609241 (3)
Prepair 500+ v0.0 MYO7A Seb Lunke gene: MYO7A was added
gene: MYO7A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900 (3)
Prepair 500+ v0.0 MYO5B Seb Lunke gene: MYO5B was added
gene: MYO5B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5B were set to Microvillus inclusion disease, 251850 (3)
Prepair 500+ v0.0 MVK Seb Lunke gene: MVK was added
gene: MVK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria, 610377 (3)
Prepair 500+ v0.0 MUT Seb Lunke gene: MUT was added
gene: MUT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, 251000 (3)
Prepair 500+ v0.0 MUSK Seb Lunke gene: MUSK was added
gene: MUSK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
Prepair 500+ v0.0 MTTP Seb Lunke gene: MTTP was added
gene: MTTP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100 (3)
Prepair 500+ v0.0 MTRR Seb Lunke gene: MTRR was added
gene: MTRR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
Prepair 500+ v0.0 MTR Seb Lunke gene: MTR was added
gene: MTR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
Prepair 500+ v0.0 MTMR2 Seb Lunke gene: MTMR2 was added
gene: MTMR2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
Prepair 500+ v0.0 MTM1 Seb Lunke gene: MTM1 was added
gene: MTM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400 (3)
Prepair 500+ v0.0 MTHFR Seb Lunke gene: MTHFR was added
gene: MTHFR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250 (3)
Prepair 500+ v0.0 MTFMT Seb Lunke gene: MTFMT was added
gene: MTFMT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, 614947 (3)
Prepair 500+ v0.0 MRE11 Seb Lunke gene: MRE11 was added
gene: MRE11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder, 604391 (3)
Prepair 500+ v0.0 MPV17 Seb Lunke gene: MPV17 was added
gene: MPV17 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
Prepair 500+ v0.0 MPL Seb Lunke gene: MPL was added
gene: MPL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
Prepair 500+ v0.0 MPI Seb Lunke gene: MPI was added
gene: MPI was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, 602579 (3)
Prepair 500+ v0.0 MOCS2 Seb Lunke gene: MOCS2 was added
gene: MOCS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B, 252160 (3)
Prepair 500+ v0.0 MOCS1 Seb Lunke gene: MOCS1 was added
gene: MOCS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, 252150 (3)
Prepair 500+ v0.0 MMADHC Seb Lunke gene: MMADHC was added
gene: MMADHC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
Prepair 500+ v0.0 MMACHC Seb Lunke gene: MMACHC was added
gene: MMACHC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
Prepair 500+ v0.0 MMAB Seb Lunke gene: MMAB was added
gene: MMAB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
Prepair 500+ v0.0 MMAA Seb Lunke gene: MMAA was added
gene: MMAA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
Prepair 500+ v0.0 MLYCD Seb Lunke gene: MLYCD was added
gene: MLYCD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency, 248360 (3)
Prepair 500+ v0.0 MLC1 Seb Lunke gene: MLC1 was added
gene: MLC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
Prepair 500+ v0.0 MKS1 Seb Lunke gene: MKS1 was added
gene: MKS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000 (3)
Prepair 500+ v0.0 MKKS Seb Lunke gene: MKKS was added
gene: MKKS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to McKusick-Kaufman syndrome, 236700 (3)
Prepair 500+ v0.0 MID1 Seb Lunke gene: MID1 was added
gene: MID1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3)
Prepair 500+ v0.0 MFSD8 Seb Lunke gene: MFSD8 was added
gene: MFSD8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
Prepair 500+ v0.0 MFN2 Seb Lunke gene: MFN2 was added
gene: MFN2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive
Prepair 500+ v0.0 METTL23 Seb Lunke gene: METTL23 was added
gene: METTL23 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942 (3)
Prepair 500+ v0.0 MESP2 Seb Lunke gene: MESP2 was added
gene: MESP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
Prepair 500+ v0.0 MED17 Seb Lunke gene: MED17 was added
gene: MED17 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
Prepair 500+ v0.0 MED12 Seb Lunke gene: MED12 was added
gene: MED12 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520 (3)
Prepair 500+ v0.0 MECP2 Seb Lunke gene: MECP2 was added
gene: MECP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3)
Prepair 500+ v0.0 MCPH1 Seb Lunke gene: MCPH1 was added
gene: MCPH1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, 251200 (3)
Prepair 500+ v0.0 MCOLN1 Seb Lunke gene: MCOLN1 was added
gene: MCOLN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, 252650 (3)
Prepair 500+ v0.0 MASP1 Seb Lunke gene: MASP1 was added
gene: MASP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC syndrome 1, 257920 (3)
Prepair 500+ v0.0 MANBA Seb Lunke gene: MANBA was added
gene: MANBA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta, 248510 (3)
Prepair 500+ v0.0 MAN2B1 Seb Lunke gene: MAN2B1 was added
gene: MAN2B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500 (3)
Prepair 500+ v0.0 LZTFL1 Seb Lunke gene: LZTFL1 was added
gene: LZTFL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3)
Prepair 500+ v0.0 LYST Seb Lunke gene: LYST was added
gene: LYST was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500 (3)
Prepair 500+ v0.0 LRPPRC Seb Lunke gene: LRPPRC was added
gene: LRPPRC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111 (3)
Prepair 500+ v0.0 LRP2 Seb Lunke gene: LRP2 was added
gene: LRP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 (3)
Prepair 500+ v0.0 LRAT Seb Lunke gene: LRAT was added
gene: LRAT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to Leber congenital amaurosis 14, 613341 (3)
Prepair 500+ v0.0 LPL Seb Lunke gene: LPL was added
gene: LPL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600 (3)
Prepair 500+ v0.0 LMNA Seb Lunke gene: LMNA was added
gene: LMNA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 18551513; 17377071; 15148145
Phenotypes for gene: LMNA were set to Restrictive dermopathy, lethal, 275210 (3)
Prepair 500+ v0.0 LMBRD1 Seb Lunke gene: LMBRD1 was added
gene: LMBRD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
Prepair 500+ v0.0 LIPA Seb Lunke gene: LIPA was added
gene: LIPA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, 278000 (3)
Prepair 500+ v0.0 LIG4 Seb Lunke gene: LIG4 was added
gene: LIG4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to LIG4 syndrome, 606593 (3)
Prepair 500+ v0.0 LIFR Seb Lunke gene: LIFR was added
gene: LIFR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
Prepair 500+ v0.0 LHX3 Seb Lunke gene: LHX3 was added
gene: LHX3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, 221750 (3)
Prepair 500+ v0.0 LDLRAP1 Seb Lunke gene: LDLRAP1 was added
gene: LDLRAP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
Prepair 500+ v0.0 LDLR Seb Lunke gene: LDLR was added
gene: LDLR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLR were set to LDL cholesterol level QTL2/Hypercholesterolemia, familial
Prepair 500+ v0.0 LCA5 Seb Lunke gene: LCA5 was added
gene: LCA5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537 (3)
Prepair 500+ v0.0 LARS Seb Lunke gene: LARS was added
gene: LARS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438
Prepair 500+ v0.0 LARGE1 Seb Lunke gene: LARGE1 was added
gene: LARGE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Prepair 500+ v0.0 LAMC2 Seb Lunke gene: LAMC2 was added
gene: LAMC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Prepair 500+ v0.0 LAMB3 Seb Lunke gene: LAMB3 was added
gene: LAMB3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Prepair 500+ v0.0 LAMB2 Seb Lunke gene: LAMB2 was added
gene: LAMB2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to Pierson syndrome, 609049 (3)
Prepair 500+ v0.0 LAMB1 Seb Lunke gene: LAMB1 was added
gene: LAMB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, 615191 (3)
Prepair 500+ v0.0 LAMA3 Seb Lunke gene: LAMA3 was added
gene: LAMA3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Prepair 500+ v0.0 LAMA2 Seb Lunke gene: LAMA2 was added
gene: LAMA2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Prepair 500+ v0.0 L2HGDH Seb Lunke gene: L2HGDH was added
gene: L2HGDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792 (3)
Prepair 500+ v0.0 L1CAM Seb Lunke gene: L1CAM was added
gene: L1CAM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to MASA syndrome, 303350 (3)
Prepair 500+ v0.0 KRT14 Seb Lunke gene: KRT14 was added
gene: KRT14 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Prepair 500+ v0.0 KIF7 Seb Lunke gene: KIF7 was added
gene: KIF7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, 614120 (3)
Prepair 500+ v0.0 KIF1A Seb Lunke gene: KIF1A was added
gene: KIF1A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive, 610357 (3)
Prepair 500+ v0.0 KDM5C Seb Lunke gene: KDM5C was added
gene: KDM5C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM5C were set to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)
Prepair 500+ v0.0 KCNQ1 Seb Lunke gene: KCNQ1 was added
gene: KCNQ1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNQ1 were set to 29033053; 28438721
Phenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome, 220400 (3)
Prepair 500+ v0.0 KCNJ11 Seb Lunke gene: KCNJ11 was added
gene: KCNJ11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Prepair 500+ v0.0 KCNJ1 Seb Lunke gene: KCNJ1 was added
gene: KCNJ1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, 241200 (3)
Prepair 500+ v0.0 KATNB1 Seb Lunke gene: KATNB1 was added
gene: KATNB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, 616212 (3)
Prepair 500+ v0.0 JAK3 Seb Lunke gene: JAK3 was added
gene: JAK3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
Prepair 500+ v0.0 IVD Seb Lunke gene: IVD was added
gene: IVD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia, 243500 (3)
Prepair 500+ v0.0 ITPR1 Seb Lunke gene: ITPR1 was added
gene: ITPR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700 (3), Autosomal recessive
Prepair 500+ v0.0 ITGB4 Seb Lunke gene: ITGB4 was added
gene: ITGB4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
Prepair 500+ v0.0 ITGA6 Seb Lunke gene: ITGA6 was added
gene: ITGA6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA6 were set to 27607025; 31502654; 20301336; 9158140; 34525201
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
Prepair 500+ v0.0 IQSEC2 Seb Lunke gene: IQSEC2 was added
gene: IQSEC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3)
Prepair 500+ v0.0 INVS Seb Lunke gene: INVS was added
gene: INVS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile, 602088 (3)
Prepair 500+ v0.0 INPP5E Seb Lunke gene: INPP5E was added
gene: INPP5E was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to Joubert syndrome 1, 213300 (3)
Prepair 500+ v0.0 IL7R Seb Lunke gene: IL7R was added
gene: IL7R was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
Prepair 500+ v0.0 IL2RG Seb Lunke gene: IL2RG was added
gene: IL2RG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, 300400 (3)
Prepair 500+ v0.0 IL1RAPL1 Seb Lunke gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL1RAPL1 were set to Mental retardation, X-linked 21/34, 300143 (3)
Prepair 500+ v0.0 IKBKB Seb Lunke gene: IKBKB was added
gene: IKBKB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IKBKB were set to Immunodeficiency 15, 615592 (3)
Prepair 500+ v0.0 IGHMBP2 Seb Lunke gene: IGHMBP2 was added
gene: IGHMBP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI, 604320 (3)
Prepair 500+ v0.0 IDUA Seb Lunke gene: IDUA was added
gene: IDUA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, 607014 (3)
Prepair 500+ v0.0 IDS Seb Lunke gene: IDS was added
gene: IDS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II, 309900 (3)
Prepair 500+ v0.0 HYLS1 Seb Lunke gene: HYLS1 was added
gene: HYLS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (3)
Prepair 500+ v0.0 HUWE1 Seb Lunke gene: HUWE1 was added
gene: HUWE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HUWE1 were set to Mental retardation, X-linked syndromic, Turner type, 300706 (3)
Prepair 500+ v0.0 HSD3B2 Seb Lunke gene: HSD3B2 was added
gene: HSD3B2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B2 were set to 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)
Prepair 500+ v0.0 HSD17B4 Seb Lunke gene: HSD17B4 was added
gene: HSD17B4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515 (3)
Prepair 500+ v0.0 HSD17B10 Seb Lunke gene: HSD17B10 was added
gene: HSD17B10 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease
Prepair 500+ v0.0 HPS6 Seb Lunke gene: HPS6 was added
gene: HPS6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, 614075 (3)
Prepair 500+ v0.0 HPS5 Seb Lunke gene: HPS5 was added
gene: HPS5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5, 614074 (3)
Prepair 500+ v0.0 HPS4 Seb Lunke gene: HPS4 was added
gene: HPS4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, 614073 (3)
Prepair 500+ v0.0 HPS3 Seb Lunke gene: HPS3 was added
gene: HPS3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, 614072 (3)
Prepair 500+ v0.0 HPS1 Seb Lunke gene: HPS1 was added
gene: HPS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, 203300 (3)
Prepair 500+ v0.0 HPRT1 Seb Lunke gene: HPRT1 was added
gene: HPRT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, 300322 (3)
Prepair 500+ v0.0 HPD Seb Lunke gene: HPD was added
gene: HPD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to Tyrosinemia, type III, 276710 (3)
Prepair 500+ v0.0 HMGCS2 Seb Lunke gene: HMGCS2 was added
gene: HMGCS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency, 605911 (3)
Prepair 500+ v0.0 HMGCL Seb Lunke gene: HMGCL was added
gene: HMGCL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450 (3)
Prepair 500+ v0.0 HLCS Seb Lunke gene: HLCS was added
gene: HLCS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270 (3)
Prepair 500+ v0.0 HIBCH Seb Lunke gene: HIBCH was added
gene: HIBCH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
Prepair 500+ v0.0 HGSNAT Seb Lunke gene: HGSNAT was added
gene: HGSNAT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Prepair 500+ v0.0 HFE2 Seb Lunke gene: HFE2 was added
gene: HFE2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390 (3)
Prepair 500+ v0.0 HEXB Seb Lunke gene: HEXB was added
gene: HEXB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
Prepair 500+ v0.0 HEXA Seb Lunke gene: HEXA was added
gene: HEXA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease, 272800 (3)
Prepair 500+ v0.0 HCFC1 Seb Lunke gene: HCFC1 was added
gene: HCFC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
Prepair 500+ v0.0 HBB Seb Lunke gene: HBB was added
gene: HBB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBB were set to Thalassemias, beta-, 613985 (3)
Prepair 500+ v0.0 HAX1 Seb Lunke gene: HAX1 was added
gene: HAX1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)
Prepair 500+ v0.0 HAMP Seb Lunke gene: HAMP was added
gene: HAMP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B, 613313 (3)
Prepair 500+ v0.0 HADHB Seb Lunke gene: HADHB was added
gene: HADHB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015 (3)
Prepair 500+ v0.0 HADHA Seb Lunke gene: HADHA was added
gene: HADHA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Fatty liver, acute, of pregnancy, 609016 (3)
Prepair 500+ v0.0 HADH Seb Lunke gene: HADH was added
gene: HADH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)
Prepair 500+ v0.0 GUSB Seb Lunke gene: GUSB was added
gene: GUSB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220 (3)
Prepair 500+ v0.0 GUCY2D Seb Lunke gene: GUCY2D was added
gene: GUCY2D was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY2D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2D were set to Leber congenital amaurosis 1, 204000 (3)
Prepair 500+ v0.0 GSS Seb Lunke gene: GSS was added
gene: GSS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130 (3)
Prepair 500+ v0.0 GPSM2 Seb Lunke gene: GPSM2 was added
gene: GPSM2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome, 604213 (3)
Prepair 500+ v0.0 GPR143 Seb Lunke gene: GPR143 was added
gene: GPR143 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPR143 were set to Ocular albinism, type I, Nettleship-Falls type, 300500 (3)
Prepair 500+ v0.0 GPC3 Seb Lunke gene: GPC3 was added
gene: GPC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)
Prepair 500+ v0.0 GORAB Seb Lunke gene: GORAB was added
gene: GORAB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, 231070 (3)
Prepair 500+ v0.0 GNS Seb Lunke gene: GNS was added
gene: GNS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940 (3)
Prepair 500+ v0.0 GNPTG Seb Lunke gene: GNPTG was added
gene: GNPTG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma, 252605 (3)
Prepair 500+ v0.0 GNPTAB Seb Lunke gene: GNPTAB was added
gene: GNPTAB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta, 252600 (3)
Prepair 500+ v0.0 GNPAT Seb Lunke gene: GNPAT was added
gene: GNPAT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)
Prepair 500+ v0.0 GNE Seb Lunke gene: GNE was added
gene: GNE was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Inclusion body myopathy, autosomal recessive, 600737 (3)
Prepair 500+ v0.0 GNB5 Seb Lunke gene: GNB5 was added
gene: GNB5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive
Prepair 500+ v0.0 GLE1 Seb Lunke gene: GLE1 was added
gene: GLE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)
Prepair 500+ v0.0 GLDC Seb Lunke gene: GLDC was added
gene: GLDC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to Glycine encephalopathy, 605899 (3)
Prepair 500+ v0.0 GLB1 Seb Lunke gene: GLB1 was added
gene: GLB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
Prepair 500+ v0.0 GLA Seb Lunke gene: GLA was added
gene: GLA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GLA were set to 29649853; 20301469
Phenotypes for gene: GLA were set to Fabry disease, MIM#301500
Prepair 500+ v0.0 GJB1 Seb Lunke gene: GJB1 was added
gene: GJB1 was added to Prepair 500+. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800)
Prepair 500+ v0.0 GHR Seb Lunke gene: GHR was added
gene: GHR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Laron dwarfism, 262500 (3)
Prepair 500+ v0.0 GFM1 Seb Lunke gene: GFM1 was added
gene: GFM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060 (3)
Prepair 500+ v0.0 GDF5 Seb Lunke gene: GDF5 was added
gene: GDF5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type, 200700 (3)
Prepair 500+ v0.0 GDF1 Seb Lunke gene: GDF1 was added
gene: GDF1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDF1 were set to Right atrial isomerism, 208530 (3)
Prepair 500+ v0.0 GDAP1 Seb Lunke gene: GDAP1 was added
gene: GDAP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Prepair 500+ v0.0 GCH1 Seb Lunke gene: GCH1 was added
gene: GCH1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)
Prepair 500+ v0.0 GCDH Seb Lunke gene: GCDH was added
gene: GCDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I, 231670 (3)
Prepair 500+ v0.0 GBE1 Seb Lunke gene: GBE1 was added
gene: GBE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500 (3)
Prepair 500+ v0.0 GATM Seb Lunke gene: GATM was added
gene: GATM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, 612718 (3)
Prepair 500+ v0.0 GAMT Seb Lunke gene: GAMT was added
gene: GAMT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, 612736 (3)
Prepair 500+ v0.0 GALT Seb Lunke gene: GALT was added
gene: GALT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosemia, 230400 (3)
Prepair 500+ v0.0 GALNS Seb Lunke gene: GALNS was added
gene: GALNS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000 (3)
Prepair 500+ v0.0 GALC Seb Lunke gene: GALC was added
gene: GALC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, 245200 (3)
Prepair 500+ v0.0 GAA Seb Lunke gene: GAA was added
gene: GAA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II, 232300 (3)
Prepair 500+ v0.0 G6PC3 Seb Lunke gene: G6PC3 was added
gene: G6PC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Dursun syndrome, 612541 (3)
Prepair 500+ v0.0 G6PC Seb Lunke gene: G6PC was added
gene: G6PC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200 (3)
Prepair 500+ v0.0 FUCA1 Seb Lunke gene: FUCA1 was added
gene: FUCA1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis, 230000 (3)
Prepair 500+ v0.0 FTSJ1 Seb Lunke gene: FTSJ1 was added
gene: FTSJ1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FTSJ1 were set to Mental retardation, X-linked 9, 309549 (3)
Prepair 500+ v0.0 FREM2 Seb Lunke gene: FREM2 was added
gene: FREM2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Fraser syndrome, 219000 (3)
Prepair 500+ v0.0 FRAS1 Seb Lunke gene: FRAS1 was added
gene: FRAS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome, 219000 (3)
Prepair 500+ v0.0 FOXRED1 Seb Lunke gene: FOXRED1 was added
gene: FOXRED1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 500+ v0.0 FOXN1 Seb Lunke gene: FOXN1 was added
gene: FOXN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
Prepair 500+ v0.0 FMR1 Seb Lunke gene: FMR1 was added
gene: FMR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FMR1 were set to Fragile X syndrome
Prepair 500+ v0.0 FLNA Seb Lunke gene: FLNA was added
gene: FLNA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to FG syndrome 2, 300321 (3)
Prepair 500+ v0.0 FKTN Seb Lunke gene: FKTN was added
gene: FKTN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)
Prepair 500+ v0.0 FKRP Seb Lunke gene: FKRP was added
gene: FKRP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
Prepair 500+ v0.0 FKBP10 Seb Lunke gene: FKBP10 was added
gene: FKBP10 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Bruck syndrome 1, 259450 (3)
Prepair 500+ v0.0 FHL1 Seb Lunke gene: FHL1 was added
gene: FHL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)
Prepair 500+ v0.0 FH Seb Lunke gene: FH was added
gene: FH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumarase deficiency, 606812 (3)
Prepair 500+ v0.0 FBXO7 Seb Lunke gene: FBXO7 was added
gene: FBXO7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300 (3)
Prepair 500+ v0.0 FBP1 Seb Lunke gene: FBP1 was added
gene: FBP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency, 229700 (3)
Prepair 500+ v0.0 FAT4 Seb Lunke gene: FAT4 was added
gene: FAT4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Prepair 500+ v0.0 FANCL Seb Lunke gene: FANCL was added
gene: FANCL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083 (3)
Prepair 500+ v0.0 FANCI Seb Lunke gene: FANCI was added
gene: FANCI was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053 (3)
Prepair 500+ v0.0 FANCG Seb Lunke gene: FANCG was added
gene: FANCG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to Fanconi anemia, complementation group G, 614082 (3)
Prepair 500+ v0.0 FANCF Seb Lunke gene: FANCF was added
gene: FANCF was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467 (3)
Prepair 500+ v0.0 FANCE Seb Lunke gene: FANCE was added
gene: FANCE was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, 600901 (3)
Prepair 500+ v0.0 FANCD2 Seb Lunke gene: FANCD2 was added
gene: FANCD2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646 (3)
Prepair 500+ v0.0 FANCC Seb Lunke gene: FANCC was added
gene: FANCC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, 227645 (3)
Prepair 500+ v0.0 FANCB Seb Lunke gene: FANCB was added
gene: FANCB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 (3)
Prepair 500+ v0.0 FANCA Seb Lunke gene: FANCA was added
gene: FANCA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi anemia, complementation group A, 227650 (3)
Prepair 500+ v0.0 FAM126A Seb Lunke gene: FAM126A was added
gene: FAM126A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating, 5, 610532 (3)
Prepair 500+ v0.0 FAH Seb Lunke gene: FAH was added
gene: FAH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, 276700 (3)
Prepair 500+ v0.0 F2 Seb Lunke gene: F2 was added
gene: F2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F2 were set to Hypoprothrombinaemia (MIM#613679); Dysprothrombinaemia, 613679
Prepair 500+ v0.0 EXOSC8 Seb Lunke gene: EXOSC8 was added
gene: EXOSC8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, 616081 (3)
Prepair 500+ v0.0 EXOSC3 Seb Lunke gene: EXOSC3 was added
gene: EXOSC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678 (3)
Prepair 500+ v0.0 EVC2 Seb Lunke gene: EVC2 was added
gene: EVC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500 (3)
Prepair 500+ v0.0 EVC Seb Lunke gene: EVC was added
gene: EVC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500 (3)
Prepair 500+ v0.0 ETHE1 Seb Lunke gene: ETHE1 was added
gene: ETHE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473 (3)
Prepair 500+ v0.0 ETFDH Seb Lunke gene: ETFDH was added
gene: ETFDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680 (3)
Prepair 500+ v0.0 ETFB Seb Lunke gene: ETFB was added
gene: ETFB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, 231680 (3)
Prepair 500+ v0.0 ETFA Seb Lunke gene: ETFA was added
gene: ETFA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA, 231680 (3)
Prepair 500+ v0.0 ESCO2 Seb Lunke gene: ESCO2 was added
gene: ESCO2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC phocomelia syndrome, 269000 (3)
Prepair 500+ v0.0 ERCC8 Seb Lunke gene: ERCC8 was added
gene: ERCC8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome, type A, 216400 (3)
Prepair 500+ v0.0 ERCC6 Seb Lunke gene: ERCC6 was added
gene: ERCC6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3)
Prepair 500+ v0.0 ERCC5 Seb Lunke gene: ERCC5 was added
gene: ERCC5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 (3)
Prepair 500+ v0.0 ERCC4 Seb Lunke gene: ERCC4 was added
gene: ERCC4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272 (3)
Prepair 500+ v0.0 ERCC2 Seb Lunke gene: ERCC2 was added
gene: ERCC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Prepair 500+ v0.0 EPG5 Seb Lunke gene: EPG5 was added
gene: EPG5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840 (3)
Prepair 500+ v0.0 ENPP1 Seb Lunke gene: ENPP1 was added
gene: ENPP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
Prepair 500+ v0.0 EMD Seb Lunke gene: EMD was added
gene: EMD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
Prepair 500+ v0.0 ELP1 Seb Lunke gene: ELP1 was added
gene: ELP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900 (3)
Prepair 500+ v0.0 EIF2B5 Seb Lunke gene: EIF2B5 was added
gene: EIF2B5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Prepair 500+ v0.0 EIF2B4 Seb Lunke gene: EIF2B4 was added
gene: EIF2B4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896 (3)
Prepair 500+ v0.0 EIF2B3 Seb Lunke gene: EIF2B3 was added
gene: EIF2B3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Prepair 500+ v0.0 EIF2B2 Seb Lunke gene: EIF2B2 was added
gene: EIF2B2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Prepair 500+ v0.0 EIF2B1 Seb Lunke gene: EIF2B1 was added
gene: EIF2B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Prepair 500+ v0.0 EIF2AK3 Seb Lunke gene: EIF2AK3 was added
gene: EIF2AK3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (3)
Prepair 500+ v0.0 EDA Seb Lunke gene: EDA was added
gene: EDA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
Prepair 500+ v0.0 ECHS1 Seb Lunke gene: ECHS1 was added
gene: ECHS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
Prepair 500+ v0.0 DYSF Seb Lunke gene: DYSF was added
gene: DYSF was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601 (3)
Prepair 500+ v0.0 DYNC2H1 Seb Lunke gene: DYNC2H1 was added
gene: DYNC2H1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
Prepair 500+ v0.0 DYM Seb Lunke gene: DYM was added
gene: DYM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800 (3)
Prepair 500+ v0.0 DOK7 Seb Lunke gene: DOK7 was added
gene: DOK7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300 (3)
Prepair 500+ v0.0 DOCK6 Seb Lunke gene: DOCK6 was added
gene: DOCK6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2, 614219 (3)
Prepair 500+ v0.0 DNMT3B Seb Lunke gene: DNMT3B was added
gene: DNMT3B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
Prepair 500+ v0.0 DNAI2 Seb Lunke gene: DNAI2 was added
gene: DNAI2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
Prepair 500+ v0.0 DNAI1 Seb Lunke gene: DNAI1 was added
gene: DNAI1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
Prepair 500+ v0.0 DNAH5 Seb Lunke gene: DNAH5 was added
gene: DNAH5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
Prepair 500+ v0.0 DNAH11 Seb Lunke gene: DNAH11 was added
gene: DNAH11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
Prepair 500+ v0.0 DMD Seb Lunke gene: DMD was added
gene: DMD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200 (3)
Prepair 500+ v0.0 DLL3 Seb Lunke gene: DLL3 was added
gene: DLL3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
Prepair 500+ v0.0 DLG3 Seb Lunke gene: DLG3 was added
gene: DLG3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DLG3 were set to Mental retardation, X-linked 90, 300850 (3)
Prepair 500+ v0.0 DLD Seb Lunke gene: DLD was added
gene: DLD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
Prepair 500+ v0.0 DKC1 Seb Lunke gene: DKC1 was added
gene: DKC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, 305000 (3)
Prepair 500+ v0.0 DIS3L2 Seb Lunke gene: DIS3L2 was added
gene: DIS3L2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000 (3)
Prepair 500+ v0.0 DHDDS Seb Lunke gene: DHDDS was added
gene: DHDDS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861 (3)
Prepair 500+ v0.0 DHCR7 Seb Lunke gene: DHCR7 was added
gene: DHCR7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400 (3)
Prepair 500+ v0.0 DHCR24 Seb Lunke gene: DHCR24 was added
gene: DHCR24 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to Desmosterolosis, 602398 (3)
Prepair 500+ v0.0 DGUOK Seb Lunke gene: DGUOK was added
gene: DGUOK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)
Prepair 500+ v0.0 DGAT1 Seb Lunke gene: DGAT1 was added
gene: DGAT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGAT1 were set to ?Diarrhea 7, protein-losing enteropathy type
Prepair 500+ v0.0 DDX11 Seb Lunke gene: DDX11 was added
gene: DDX11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX11 were set to Warsaw breakage syndrome, 613398 (3)
Prepair 500+ v0.0 DDC Seb Lunke gene: DDC was added
gene: DDC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
Prepair 500+ v0.0 DCX Seb Lunke gene: DCX was added
gene: DCX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DCX were set to Lissencephaly, X-linked, 300067 (3)
Prepair 500+ v0.0 DCLRE1C Seb Lunke gene: DCLRE1C was added
gene: DCLRE1C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, 602450 (3)
Prepair 500+ v0.0 DCAF17 Seb Lunke gene: DCAF17 was added
gene: DCAF17 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, 241080 (3)
Prepair 500+ v0.0 DBT Seb Lunke gene: DBT was added
gene: DBT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease, type II, 248600 (3)
Prepair 500+ v0.0 D2HGDH Seb Lunke gene: D2HGDH was added
gene: D2HGDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, 600721 (3)
Prepair 500+ v0.0 CYP7B1 Seb Lunke gene: CYP7B1 was added
gene: CYP7B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, 613812 (3)
Prepair 500+ v0.0 CYP27A1 Seb Lunke gene: CYP27A1 was added
gene: CYP27A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700 (3)
Prepair 500+ v0.0 CYP1B1 Seb Lunke gene: CYP1B1 was added
gene: CYP1B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP1B1 were set to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
Prepair 500+ v0.0 CYP17A1 Seb Lunke gene: CYP17A1 was added
gene: CYP17A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated, 202110 (3)
Prepair 500+ v0.0 CYP11B2 Seb Lunke gene: CYP11B2 was added
gene: CYP11B2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Prepair 500+ v0.0 CYP11A1 Seb Lunke gene: CYP11A1 was added
gene: CYP11A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
Prepair 500+ v0.0 CYBB Seb Lunke gene: CYBB was added
gene: CYBB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, 306400 (3)
Prepair 500+ v0.0 CYBA Seb Lunke gene: CYBA was added
gene: CYBA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
Prepair 500+ v0.0 CUL4B Seb Lunke gene: CUL4B was added
gene: CUL4B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)
Prepair 500+ v0.0 CTSK Seb Lunke gene: CTSK was added
gene: CTSK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis, 265800 (3)
Prepair 500+ v0.0 CTSD Seb Lunke gene: CTSD was added
gene: CTSD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
Prepair 500+ v0.0 CTSC Seb Lunke gene: CTSC was added
gene: CTSC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome, 245000 (3)
Prepair 500+ v0.0 CTSA Seb Lunke gene: CTSA was added
gene: CTSA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSA were set to Galactosialidosis, 256540 (3)
Prepair 500+ v0.0 CTNS Seb Lunke gene: CTNS was added
gene: CTNS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to Cystinosis, nephropathic, 219800 (3)
Prepair 500+ v0.0 CSPP1 Seb Lunke gene: CSPP1 was added
gene: CSPP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to Joubert syndrome 21, 615636 (3)
Prepair 500+ v0.0 CRTAP Seb Lunke gene: CRTAP was added
gene: CRTAP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII, 610682 (3)
Prepair 500+ v0.0 CRB1 Seb Lunke gene: CRB1 was added
gene: CRB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Leber congenital amaurosis 8, 613835 (3)
Prepair 500+ v0.0 CPT2 Seb Lunke gene: CPT2 was added
gene: CPT2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal, 608836 (3)
Prepair 500+ v0.0 CPT1A Seb Lunke gene: CPT1A was added
gene: CPT1A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, 255120 (3)
Prepair 500+ v0.0 CPS1 Seb Lunke gene: CPS1 was added
gene: CPS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, 237300 (3)
Prepair 500+ v0.0 COX15 Seb Lunke gene: COX15 was added
gene: COX15 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Prepair 500+ v0.0 COLQ Seb Lunke gene: COLQ was added
gene: COLQ was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 (3)
Prepair 500+ v0.0 COLEC11 Seb Lunke gene: COLEC11 was added
gene: COLEC11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC11 were set to 3MC syndrome 2, 265050 (3)
Prepair 500+ v0.0 COL7A1 Seb Lunke gene: COL7A1 was added
gene: COL7A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica, AR, 226600 (3)
Prepair 500+ v0.0 COL6A1 Seb Lunke gene: COL6A1 was added
gene: COL6A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Prepair 500+ v0.0 COL4A5 Seb Lunke gene: COL4A5 was added
gene: COL4A5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked
Prepair 500+ v0.0 COL4A4 Seb Lunke gene: COL4A4 was added
gene: COL4A4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to Alport syndrome, autosomal recessive, 203780 (3)
Prepair 500+ v0.0 COL4A3 Seb Lunke gene: COL4A3 was added
gene: COL4A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780 (3)
Prepair 500+ v0.0 COL27A1 Seb Lunke gene: COL27A1 was added
gene: COL27A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL27A1 were set to Steel Syndrome
Prepair 500+ v0.0 COL18A1 Seb Lunke gene: COL18A1 was added
gene: COL18A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750 (3)
Prepair 500+ v0.0 COL17A1 Seb Lunke gene: COL17A1 was added
gene: COL17A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Prepair 500+ v0.0 COL11A2 Seb Lunke gene: COL11A2 was added
gene: COL11A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2, 614524 (3)
Prepair 500+ v0.0 CNGB3 Seb Lunke gene: CNGB3 was added
gene: CNGB3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Macular degeneration, juvenile, 248200 (3)
Prepair 500+ v0.0 CLRN1 Seb Lunke gene: CLRN1 was added
gene: CLRN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Usher syndrome, type 3A, 276902 (3)
Prepair 500+ v0.0 CLPB Seb Lunke gene: CLPB was added
gene: CLPB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
Prepair 500+ v0.0 CLP1 Seb Lunke gene: CLP1 was added
gene: CLP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, 615803 (3)
Prepair 500+ v0.0 CLN8 Seb Lunke gene: CLN8 was added
gene: CLN8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, 600143 (3)
Prepair 500+ v0.0 CLN6 Seb Lunke gene: CLN6 was added
gene: CLN6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal 6, 601780 (3)
Prepair 500+ v0.0 CLN5 Seb Lunke gene: CLN5 was added
gene: CLN5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
Prepair 500+ v0.0 CLN3 Seb Lunke gene: CLN3 was added
gene: CLN3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
Prepair 500+ v0.0 CLCN7 Seb Lunke gene: CLCN7 was added
gene: CLCN7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, 611490 (3)
Prepair 500+ v0.0 CLCN5 Seb Lunke gene: CLCN5 was added
gene: CLCN5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Dent disease, 300009 (3)
Prepair 500+ v0.0 CKAP2L Seb Lunke gene: CKAP2L was added
gene: CKAP2L was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to Filippi syndrome, 272440 (3)
Prepair 500+ v0.0 CIITA Seb Lunke gene: CIITA was added
gene: CIITA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIITA were set to Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
Prepair 500+ v0.0 CHRNG Seb Lunke gene: CHRNG was added
gene: CHRNG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to Escobar syndrome, 265000 (3)
Prepair 500+ v0.0 CHRNE Seb Lunke gene: CHRNE was added
gene: CHRNE was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Prepair 500+ v0.0 CHAT Seb Lunke gene: CHAT was added
gene: CHAT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
Prepair 500+ v0.0 CFTR Seb Lunke gene: CFTR was added
gene: CFTR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis, 219700 (3)
Prepair 500+ v0.0 CEP41 Seb Lunke gene: CEP41 was added
gene: CEP41 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome 15, 614464 (3)
Prepair 500+ v0.0 CEP290 Seb Lunke gene: CEP290 was added
gene: CEP290 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome 5, 610188 (3)
Prepair 500+ v0.0 CEP152 Seb Lunke gene: CEP152 was added
gene: CEP152 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to Seckel syndrome 5, 613823 (3)
Prepair 500+ v0.0 CENPJ Seb Lunke gene: CENPJ was added
gene: CENPJ was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to Microcephaly 6, primary, autosomal recessive, 608393 (3)
Prepair 500+ v0.0 CDH23 Seb Lunke gene: CDH23 was added
gene: CDH23 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Usher syndrome, type 1D, 601067 (3)
Prepair 500+ v0.0 CD40LG Seb Lunke gene: CD40LG was added
gene: CD40LG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)
Prepair 500+ v0.0 CD40 Seb Lunke gene: CD40 was added
gene: CD40 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, 606843 (3)
Prepair 500+ v0.0 CD3D Seb Lunke gene: CD3D was added
gene: CD3D was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD3D were set to Immunodeficiency 19, 615617 (3)
Prepair 500+ v0.0 CCDC88C Seb Lunke gene: CCDC88C was added
gene: CCDC88C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
Prepair 500+ v0.0 CCDC39 Seb Lunke gene: CCDC39 was added
gene: CCDC39 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14, 613807 (3)
Prepair 500+ v0.0 CCDC103 Seb Lunke gene: CCDC103 was added
gene: CCDC103 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17, 614679 (3)
Prepair 500+ v0.0 CCBE1 Seb Lunke gene: CCBE1 was added
gene: CCBE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)
Prepair 500+ v0.0 CC2D2A Seb Lunke gene: CC2D2A was added
gene: CC2D2A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9, 612285 (3)
Prepair 500+ v0.0 CC2D1A Seb Lunke gene: CC2D1A was added
gene: CC2D1A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D1A were set to Mental retardation, autosomal recessive 3, 608443 (3)
Prepair 500+ v0.0 CASQ2 Seb Lunke gene: CASQ2 was added
gene: CASQ2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASQ2 were set to 34012068
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
Prepair 500+ v0.0 CASK Seb Lunke gene: CASK was added
gene: CASK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus
Prepair 500+ v0.0 CAPN3 Seb Lunke gene: CAPN3 was added
gene: CAPN3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
Prepair 500+ v0.0 CANT1 Seb Lunke gene: CANT1 was added
gene: CANT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to Desbuquois dysplasia, 251450 (3)
Prepair 500+ v0.0 C5orf42 Seb Lunke gene: C5orf42 was added
gene: C5orf42 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to Joubert syndrome 17, 614615 (3)
Prepair 500+ v0.0 BTK Seb Lunke gene: BTK was added
gene: BTK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency, 307200 (3)
Prepair 500+ v0.0 BSND Seb Lunke gene: BSND was added
gene: BSND was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, 602522 (3)
Prepair 500+ v0.0 BRWD3 Seb Lunke gene: BRWD3 was added
gene: BRWD3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BRWD3 were set to Mental retardation, X-linked 93, 300659 (3)
Prepair 500+ v0.0 BRAT1 Seb Lunke gene: BRAT1 was added
gene: BRAT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
Prepair 500+ v0.0 BLM Seb Lunke gene: BLM was added
gene: BLM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome, 210900 (3)
Prepair 500+ v0.0 BCS1L Seb Lunke gene: BCS1L was added
gene: BCS1L was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to GRACILE syndrome, 603358 (3)
Prepair 500+ v0.0 BCKDHB Seb Lunke gene: BCKDHB was added
gene: BCKDHB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600 (3)
Prepair 500+ v0.0 BCKDHA Seb Lunke gene: BCKDHA was added
gene: BCKDHA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia, 248600 (3)
Prepair 500+ v0.0 BBS9 Seb Lunke gene: BBS9 was added
gene: BBS9 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986 (3)
Prepair 500+ v0.0 BBS7 Seb Lunke gene: BBS7 was added
gene: BBS7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984 (3)
Prepair 500+ v0.0 BBS5 Seb Lunke gene: BBS5 was added
gene: BBS5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983 (3)
Prepair 500+ v0.0 BBS4 Seb Lunke gene: BBS4 was added
gene: BBS4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982 (3)
Prepair 500+ v0.0 BBS2 Seb Lunke gene: BBS2 was added
gene: BBS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981 (3)
Prepair 500+ v0.0 BBS12 Seb Lunke gene: BBS12 was added
gene: BBS12 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12, 615989 (3)
Prepair 500+ v0.0 BBS10 Seb Lunke gene: BBS10 was added
gene: BBS10 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10, 615987 (3)
Prepair 500+ v0.0 BBS1 Seb Lunke gene: BBS1 was added
gene: BBS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900 (3)
Prepair 500+ v0.0 B3GLCT Seb Lunke gene: B3GLCT was added
gene: B3GLCT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome, 261540 (3)
Prepair 500+ v0.0 AUH Seb Lunke gene: AUH was added
gene: AUH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, 250950 (3)
Prepair 500+ v0.0 ATRX Seb Lunke gene: ATRX was added
gene: ATRX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
Prepair 500+ v0.0 ATR Seb Lunke gene: ATR was added
gene: ATR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to Seckel syndrome 1, 210600 (3)
Prepair 500+ v0.0 ATP8B1 Seb Lunke gene: ATP8B1 was added
gene: ATP8B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1, 211600 (3)
Prepair 500+ v0.0 ATP7B Seb Lunke gene: ATP7B was added
gene: ATP7B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 28433102
Phenotypes for gene: ATP7B were set to Wilson disease, 277900 (3)
Prepair 500+ v0.0 ATP7A Seb Lunke gene: ATP7A was added
gene: ATP7A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease, 309400 (3)
Prepair 500+ v0.0 ATP6V1B1 Seb Lunke gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis with deafness, 267300 (3)
Prepair 500+ v0.0 ATM Seb Lunke gene: ATM was added
gene: ATM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia, 208900 (3)
Prepair 500+ v0.0 ASS1 Seb Lunke gene: ASS1 was added
gene: ASS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia, 215700 (3)
Prepair 500+ v0.0 ASPM Seb Lunke gene: ASPM was added
gene: ASPM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPM were set to Microcephaly 5, primary, autosomal recessive, 608716 (3)
Prepair 500+ v0.0 ASPA Seb Lunke gene: ASPA was added
gene: ASPA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to Canavan disease, 271900 (3)
Prepair 500+ v0.0 ASNS Seb Lunke gene: ASNS was added
gene: ASNS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, 615574 (3)
Prepair 500+ v0.0 ASL Seb Lunke gene: ASL was added
gene: ASL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900 (3)
Prepair 500+ v0.0 ARX Seb Lunke gene: ARX was added
gene: ARX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to Hydranencephaly with abnormal genitalia, 300215 (3)