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| Genomic newborn screening: BabyScreen+ v0.0 | AGL |
Zornitza Stark gene: AGL was added gene: AGL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#232400 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AGA |
Zornitza Stark gene: AGA was added gene: AGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to Aspartylglucosaminuria |
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| Genomic newborn screening: BabyScreen+ v0.0 | ADK |
Zornitza Stark gene: ADK was added gene: ADK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency |
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| Genomic newborn screening: BabyScreen+ v0.0 | ADGRV1 |
Zornitza Stark gene: ADGRV1 was added gene: ADGRV1 was added to gNBS. Sources: Expert list,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ADGRG1 |
Zornitza Stark gene: ADGRG1 was added gene: ADGRG1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ADAR |
Zornitza Stark gene: ADAR was added gene: ADAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria |
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| Genomic newborn screening: BabyScreen+ v0.0 | ADAMTSL2 |
Zornitza Stark gene: ADAMTSL2 was added gene: ADAMTSL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ADAMTS13 |
Zornitza Stark gene: ADAMTS13 was added gene: ADAMTS13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM#274150 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ADA |
Zornitza Stark gene: ADA was added gene: ADA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency, MIM#102700 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACVRL1 |
Zornitza Stark gene: ACVRL1 was added gene: ACVRL1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACVR1 |
Zornitza Stark gene: ACVR1 was added gene: ACVR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACTN4 |
Zornitza Stark gene: ACTN4 was added gene: ACTN4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTN4 were set to Glomerulosclerosis, focal segmental, 1 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACTN1 |
Zornitza Stark gene: ACTN1 was added gene: ACTN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTN1 were set to Macrothrombocytopenia |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACTG2 |
Zornitza Stark gene: ACTG2 was added gene: ACTG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTG2 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACTG1 |
Zornitza Stark gene: ACTG1 was added gene: ACTG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome; Deafness, autosomal dominant |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACOX1 |
Zornitza Stark gene: ACOX1 was added gene: ACOX1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACE |
Zornitza Stark gene: ACE was added gene: ACE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACE were set to Renal tubular dysgenesis |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACAT1 |
Zornitza Stark gene: ACAT1 was added gene: ACAT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#203750 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACADVL |
Zornitza Stark gene: ACADVL was added gene: ACADVL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#201475 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACADM |
Zornitza Stark gene: ACADM was added gene: ACADM was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADM were set to Medium chain acyl CoA dehydrogenase deficiency, MIM#201450 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACAD9 |
Zornitza Stark gene: ACAD9 was added gene: ACAD9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, nuclear type 20, MIM#611126 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ACAD8 |
Zornitza Stark gene: ACAD8 was added gene: ACAD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCG5 |
Zornitza Stark gene: ABCG5 was added gene: ABCG5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCG5 were set to Sitosterolemia |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCD4 |
Zornitza Stark gene: ABCD4 was added gene: ABCD4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to MAHCJ, MIM#614857; Methylmalonic aciduria and homocystinuria, cblJ TYPE |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCD1 |
Zornitza Stark gene: ABCD1 was added gene: ABCD1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCC8 |
Zornitza Stark gene: ABCC8 was added gene: ABCC8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, MIM#256450 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCC6 |
Zornitza Stark gene: ABCC6 was added gene: ABCC6 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, #MIM614473 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCC2 |
Zornitza Stark gene: ABCC2 was added gene: ABCC2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCC2 were set to 11477083; 30344695 Phenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome, MIM# 237500 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCB4 |
Zornitza Stark gene: ABCB4 was added gene: ABCB4 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCB11 |
Zornitza Stark gene: ABCB11 was added gene: ABCB11 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCA4 |
Zornitza Stark gene: ABCA4 was added gene: ABCA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA4 were set to Stargardt disease |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCA3 |
Zornitza Stark gene: ABCA3 was added gene: ABCA3 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ABCA12 |
Zornitza Stark gene: ABCA12 was added gene: ABCA12 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AARS |
Zornitza Stark gene: AARS was added gene: AARS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AARS were set to Charcot-Marie-Tooth disease |
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| Genomic newborn screening: BabyScreen+ v0.0 | AAAS |
Zornitza Stark gene: AAAS was added gene: AAAS was added to gNBS. Sources: BabySeq Category A gene,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 |
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