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| Prepair 500+ v0.0 | ARSB |
Seb Lunke gene: ARSB was added gene: ARSB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3) |
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| Prepair 500+ v0.0 | ARSA |
Seb Lunke gene: ARSA was added gene: ARSA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, 250100 (3) |
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| Prepair 500+ v0.0 | ARL6 |
Seb Lunke gene: ARL6 was added gene: ARL6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151 (3) |
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| Prepair 500+ v0.0 | ARL13B |
Seb Lunke gene: ARL13B was added gene: ARL13B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291 (3) |
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| Prepair 500+ v0.0 | ARG1 |
Seb Lunke gene: ARG1 was added gene: ARG1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARG1 were set to Argininemia, 207800 (3) |
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| Prepair 500+ v0.0 | AQP2 |
Seb Lunke gene: AQP2 was added gene: AQP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AQP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 125800 (3) |
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| Prepair 500+ v0.0 | AP1S2 |
Seb Lunke gene: AP1S2 was added gene: AP1S2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, 304340 (3) |
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| Prepair 500+ v0.0 | AMT |
Seb Lunke gene: AMT was added gene: AMT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMT were set to Glycine encephalopathy, 605899 (3) |
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| Prepair 500+ v0.0 | AMPD2 |
Seb Lunke gene: AMPD2 was added gene: AMPD2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809 (3) |
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| Prepair 500+ v0.0 | ALPL |
Seb Lunke gene: ALPL was added gene: ALPL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, 241500 (3) |
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| Prepair 500+ v0.0 | ALMS1 |
Seb Lunke gene: ALMS1 was added gene: ALMS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800 (3) |
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| Prepair 500+ v0.0 | ALG6 |
Seb Lunke gene: ALG6 was added gene: ALG6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic, 603147 (3) |
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| Prepair 500+ v0.0 | ALG3 |
Seb Lunke gene: ALG3 was added gene: ALG3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id, 601110 (3) |
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| Prepair 500+ v0.0 | ALG1 |
Seb Lunke gene: ALG1 was added gene: ALG1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, 608540 (3) |
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| Prepair 500+ v0.0 | ALDOB |
Seb Lunke gene: ALDOB was added gene: ALDOB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOB were set to Fructose intolerance, 229600 (3) |
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| Prepair 500+ v0.0 | ALDH7A1 |
Seb Lunke gene: ALDH7A1 was added gene: ALDH7A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, 266100 (3) |
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| Prepair 500+ v0.0 | ALDH5A1 |
Seb Lunke gene: ALDH5A1 was added gene: ALDH5A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency, 271980 (3) |
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| Prepair 500+ v0.0 | ALDH3A2 |
Seb Lunke gene: ALDH3A2 was added gene: ALDH3A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, 270200 (3) |
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| Prepair 500+ v0.0 | ALDH18A1 |
Seb Lunke gene: ALDH18A1 was added gene: ALDH18A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9B, autosomal recessive, 616586 (3) |
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| Prepair 500+ v0.0 | AK2 |
Seb Lunke gene: AK2 was added gene: AK2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK2 were set to Reticular dysgenesis, 267500 (3) |
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| Prepair 500+ v0.0 | AIPL1 |
Seb Lunke gene: AIPL1 was added gene: AIPL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIPL1 were set to Cone-rod dystrophy, 604393 (3) |
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| Prepair 500+ v0.0 | AIFM1 |
Seb Lunke gene: AIFM1 was added gene: AIFM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AIFM1 were set to Cowchock syndrome, 310490 (3) |
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| Prepair 500+ v0.0 | AHI1 |
Seb Lunke gene: AHI1 was added gene: AHI1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to Joubert syndrome-3, 608629 (3) |
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| Prepair 500+ v0.0 | AGXT |
Seb Lunke gene: AGXT was added gene: AGXT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900 (3) |
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| Prepair 500+ v0.0 | AGPS |
Seb Lunke gene: AGPS was added gene: AGPS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPS were set to Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) |
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| Prepair 500+ v0.0 | AGL |
Seb Lunke gene: AGL was added gene: AGL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGL were set to Glycogen storage disease IIIa, 232400 (3) |
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| Prepair 500+ v0.0 | AGK |
Seb Lunke gene: AGK was added gene: AGK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to Sengers syndrome, 212350 (3) |
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| Prepair 500+ v0.0 | AGA |
Seb Lunke gene: AGA was added gene: AGA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to Aspartylglucosaminuria, 208400 (3) |
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| Prepair 500+ v0.0 | ADSL |
Seb Lunke gene: ADSL was added gene: ADSL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADSL were set to Adenylosuccinase deficiency, 103050 (3) |
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| Prepair 500+ v0.0 | ADGRV1 |
Seb Lunke gene: ADGRV1 was added gene: ADGRV1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C, 605472 (3) |
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| Prepair 500+ v0.0 | ADGRG1 |
Seb Lunke gene: ADGRG1 was added gene: ADGRG1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal, 606854 (3) |
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| Prepair 500+ v0.0 | ADAR |
Seb Lunke gene: ADAR was added gene: ADAR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 (3) |
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| Prepair 500+ v0.0 | ADAMTS2 |
Seb Lunke gene: ADAMTS2 was added gene: ADAMTS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome, type VIIC, 225410 (3) |
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| Prepair 500+ v0.0 | ADA |
Seb Lunke gene: ADA was added gene: ADA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial, 102700 (3) |
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| Prepair 500+ v0.0 | ACOX1 |
Seb Lunke gene: ACOX1 was added gene: ACOX1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) |
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| Prepair 500+ v0.0 | ACAT1 |
Seb Lunke gene: ACAT1 was added gene: ACAT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750 (3) |
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| Prepair 500+ v0.0 | ACADVL |
Seb Lunke gene: ACADVL was added gene: ACADVL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADVL were set to VLCAD deficiency, 201475 (3) |
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| Prepair 500+ v0.0 | ACADM |
Seb Lunke gene: ACADM was added gene: ACADM was added to Prepair 500+. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450 |
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| Prepair 500+ v0.0 | ACAD9 |
Seb Lunke gene: ACAD9 was added gene: ACAD9 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) |
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| Prepair 500+ v0.0 | ABCD1 |
Seb Lunke gene: ABCD1 was added gene: ABCD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, 300100 (3) |
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| Prepair 500+ v0.0 | ABCC8 |
Seb Lunke gene: ABCC8 was added gene: ABCC8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) |
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| Prepair 500+ v0.0 | ABCB4 |
Seb Lunke gene: ABCB4 was added gene: ABCB4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3, 602347 (3) |
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| Prepair 500+ v0.0 | ABCB11 |
Seb Lunke gene: ABCB11 was added gene: ABCB11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2, 601847 (3) |
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| Prepair 500+ v0.0 | ABCA3 |
Seb Lunke gene: ABCA3 was added gene: ABCA3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) |
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| Prepair 500+ v0.0 | ABCA12 |
Seb Lunke gene: ABCA12 was added gene: ABCA12 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) |
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| Prepair 500+ v0.0 | AARS2 |
Seb Lunke gene: AARS2 was added gene: AARS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096 (3) |
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| Prepair 500+ v0.0 | AAAS |
Seb Lunke gene: AAAS was added gene: AAAS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3) |
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| Prepair 500+ v0.0 | Seb Lunke Added panel Prepair 500+ | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||