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| Genomic newborn screening: BabyScreen+ v0.0 | ITGB2 |
Zornitza Stark gene: ITGB2 was added gene: ITGB2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, MIM# 116920 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ITGA3 |
Zornitza Stark gene: ITGA3 was added gene: ITGA3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital |
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| Genomic newborn screening: BabyScreen+ v0.0 | ISPD |
Zornitza Stark gene: ISPD was added gene: ISPD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
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| Genomic newborn screening: BabyScreen+ v0.0 | IRF6 |
Zornitza Stark gene: IRF6 was added gene: IRF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IRF6 were set to van der Woude syndrome MIM# 119300 |
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| Genomic newborn screening: BabyScreen+ v0.0 | IRAK4 |
Zornitza Stark gene: IRAK4 was added gene: IRAK4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IRAK4 were set to Immunodeficiency 67, MIM# 607676 |
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| Genomic newborn screening: BabyScreen+ v0.0 | IQCB1 |
Zornitza Stark gene: IQCB1 was added gene: IQCB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5 |
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| Genomic newborn screening: BabyScreen+ v0.0 | INVS |
Zornitza Stark gene: INVS was added gene: INVS was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | INSR |
Zornitza Stark gene: INSR was added gene: INSR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INSR were set to Leprechaunism |
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| Genomic newborn screening: BabyScreen+ v0.0 | INS |
Zornitza Stark gene: INS was added gene: INS was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life |
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| Genomic newborn screening: BabyScreen+ v0.0 | ILDR1 |
Zornitza Stark gene: ILDR1 was added gene: ILDR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ILDR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ILDR1 were set to Deafness, autosomal recessive |
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| Genomic newborn screening: BabyScreen+ v0.0 | IL7R |
Zornitza Stark gene: IL7R was added gene: IL7R was added to gNBS. Sources: Expert list,BeginNGS,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 MIM#608971 |
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| Genomic newborn screening: BabyScreen+ v0.0 | IL2RG |
Zornitza Stark gene: IL2RG was added gene: IL2RG was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#312863 |
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| Genomic newborn screening: BabyScreen+ v0.0 | IL2RB |
Zornitza Stark gene: IL2RB was added gene: IL2RB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495 |
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| Genomic newborn screening: BabyScreen+ v0.0 | IL10RB |
Zornitza Stark gene: IL10RB was added gene: IL10RB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567 |
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| Genomic newborn screening: BabyScreen+ v0.0 | IL10RA |
Zornitza Stark gene: IL10RA was added gene: IL10RA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL10RA were set to Inflammatory bowel disease, MIM#613148 |
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| Genomic newborn screening: BabyScreen+ v0.0 | IKBKG |
Zornitza Stark gene: IKBKG was added gene: IKBKG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IKBKG were set to Incontinentia pigmenti 1 |
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| Genomic newborn screening: BabyScreen+ v0.0 | IGSF1 |
Zornitza Stark gene: IGSF1 was added gene: IGSF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGSF1 were set to Central hypothyroidism and testicular enlargement |
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| Genomic newborn screening: BabyScreen+ v0.0 | IGLL1 |
Zornitza Stark gene: IGLL1 was added gene: IGLL1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IGLL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGLL1 were set to Agammaglobulinaemia 2, MIM# 613500 |
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| Genomic newborn screening: BabyScreen+ v0.0 | IGHMBP2 |
Zornitza Stark gene: IGHMBP2 was added gene: IGHMBP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress |
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| Genomic newborn screening: BabyScreen+ v0.0 | IGHM |
Zornitza Stark gene: IGHM was added gene: IGHM was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHM were set to Agammaglobulinaemia 1, MIM# 601495 |
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| Genomic newborn screening: BabyScreen+ v0.0 | IDUA |
Zornitza Stark gene: IDUA was added gene: IDUA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#607014 |
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| Genomic newborn screening: BabyScreen+ v0.0 | IDS |
Zornitza Stark gene: IDS was added gene: IDS was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HTRA1 |
Zornitza Stark gene: HTRA1 was added gene: HTRA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HTRA1 were set to CARASIL syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | HSPG2 |
Zornitza Stark gene: HSPG2 was added gene: HSPG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | HSPB8 |
Zornitza Stark gene: HSPB8 was added gene: HSPB8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HSPB8 were set to Charcot-Marie-Tooth disease, axonal, type 2L |
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| Genomic newborn screening: BabyScreen+ v0.0 | HSD3B7 |
Zornitza Stark gene: HSD3B7 was added gene: HSD3B7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B7 were set to 3 beta-hydroxysteroid dehydrogenase deficiency |
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| Genomic newborn screening: BabyScreen+ v0.0 | HSD3B2 |
Zornitza Stark gene: HSD3B2 was added gene: HSD3B2 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HSD17B4 |
Zornitza Stark gene: HSD17B4 was added gene: HSD17B4 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HSD17B3 |
Zornitza Stark gene: HSD17B3 was added gene: HSD17B3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia |
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| Genomic newborn screening: BabyScreen+ v0.0 | HSD17B10 |
Zornitza Stark gene: HSD17B10 was added gene: HSD17B10 was added to gNBS. Sources: BabySeq Category A gene,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 17-beta-hydroxysteroid dehydrogenase X deficiency |
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| Genomic newborn screening: BabyScreen+ v0.0 | HRAS |
Zornitza Stark gene: HRAS was added gene: HRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HRAS were set to Costello syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | HPS5 |
Zornitza Stark gene: HPS5 was added gene: HPS5 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HPS4 |
Zornitza Stark gene: HPS4 was added gene: HPS4 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HPS3 |
Zornitza Stark gene: HPS3 was added gene: HPS3 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HPS1 |
Zornitza Stark gene: HPS1 was added gene: HPS1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HPRT1 |
Zornitza Stark gene: HPRT1 was added gene: HPRT1 was added to gNBS. Sources: BabySeq Category A gene,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 1 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HPD |
Zornitza Stark gene: HPD was added gene: HPD was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to Hawkinsinuria , MIM#140350; Tyrosinaemia, type III 276710 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HOMER2 |
Zornitza Stark gene: HOMER2 was added gene: HOMER2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HOMER2 were set to Autosomal dominant non syndromic deafness |
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| Genomic newborn screening: BabyScreen+ v0.0 | HNF4A |
Zornitza Stark gene: HNF4A was added gene: HNF4A was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HNF1A |
Zornitza Stark gene: HNF1A was added gene: HNF1A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1A were set to MODY, type III , MIM#600496 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HMGCL |
Zornitza Stark gene: HMGCL was added gene: HMGCL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria, MIM#246450 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HLCS |
Zornitza Stark gene: HLCS was added gene: HLCS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#253270 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HK1 |
Zornitza Stark gene: HK1 was added gene: HK1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HK1 were set to Haemolytic anaemia due to hexokinase deficiency , MIM#235700 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HINT1 |
Zornitza Stark gene: HINT1 was added gene: HINT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HINT1 were set to Axonal neuropathy with neuromyotonia |
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| Genomic newborn screening: BabyScreen+ v0.0 | HGSNAT |
Zornitza Stark gene: HGSNAT was added gene: HGSNAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis IIIC |
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| Genomic newborn screening: BabyScreen+ v0.0 | HGF |
Zornitza Stark gene: HGF was added gene: HGF was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HGF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGF were set to Deafness, autosomal recessive |
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| Genomic newborn screening: BabyScreen+ v0.0 | HGD |
Zornitza Stark gene: HGD was added gene: HGD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGD were set to Alkaptonuria |
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| Genomic newborn screening: BabyScreen+ v0.0 | HEXB |
Zornitza Stark gene: HEXB was added gene: HEXB was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HEXA |
Zornitza Stark gene: HEXA was added gene: HEXA was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HESX1 |
Zornitza Stark gene: HESX1 was added gene: HESX1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to Septooptic dysplasia, MIM# 182230 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HDAC8 |
Zornitza Stark gene: HDAC8 was added gene: HDAC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle |
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| Genomic newborn screening: BabyScreen+ v0.0 | HCFC1 |
Zornitza Stark gene: HCFC1 was added gene: HCFC1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HCFC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HCFC1 were set to Methylmalonic aciduria and homocysteinemia, cblX type, MIM# 309541 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HBB |
Zornitza Stark gene: HBB was added gene: HBB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBB were set to Beta-thalassemia |
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| Genomic newborn screening: BabyScreen+ v0.0 | HBA2 |
Zornitza Stark gene: HBA2 was added gene: HBA2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBA2 were set to Thalassemia, alpha, MIM#604131 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HBA1 |
Zornitza Stark gene: HBA1 was added gene: HBA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBA1 were set to Thalassaemia alpha, MIM#604131 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HAX1 |
Zornitza Stark gene: HAX1 was added gene: HAX1 was added to gNBS. Sources: BeginNGS,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, MIM# 610738 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HARS2 |
Zornitza Stark gene: HARS2 was added gene: HARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HARS2 were set to Perrault syndrome; autosomal recessive sensorineural hearing loss |
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| Genomic newborn screening: BabyScreen+ v0.0 | HADHB |
Zornitza Stark gene: HADHB was added gene: HADHB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency, MIM#609015 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HADHA |
Zornitza Stark gene: HADHA was added gene: HADHA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency, MIM#609015; LCHAD deficiency, MIM# 609016 |
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| Genomic newborn screening: BabyScreen+ v0.0 | HADH |
Zornitza Stark gene: HADH was added gene: HADH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GYS2 |
Zornitza Stark gene: GYS2 was added gene: GYS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYS2 were set to Glycogen storage disease 0 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GUSB |
Zornitza Stark gene: GUSB was added gene: GUSB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#253220 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GSS |
Zornitza Stark gene: GSS was added gene: GSS was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GRXCR1 |
Zornitza Stark gene: GRXCR1 was added gene: GRXCR1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: GRXCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRXCR1 were set to 26445815; 20137778; 20137774; 26226137; 25802247; 26969326 Phenotypes for gene: GRXCR1 were set to Deafness, autosomal recessive 25, MIM# 613285 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GRHPR |
Zornitza Stark gene: GRHPR was added gene: GRHPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II |
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| Genomic newborn screening: BabyScreen+ v0.0 | GRHL2 |
Zornitza Stark gene: GRHL2 was added gene: GRHL2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GRHL2 were set to Autosomal dominant hearing loss, MIM# 608641 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GPSM2 |
Zornitza Stark gene: GPSM2 was added gene: GPSM2 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GPR143 |
Zornitza Stark gene: GPR143 was added gene: GPR143 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GOT2 |
Zornitza Stark gene: GOT2 was added gene: GOT2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GOT2 were set to Developmental and epileptic encephalopathy 82, MIM# 618721 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GNS |
Zornitza Stark gene: GNS was added gene: GNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNS were set to Mucopolysaccharidosis IIId |
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| Genomic newborn screening: BabyScreen+ v0.0 | GNPTG |
Zornitza Stark gene: GNPTG was added gene: GNPTG was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GNPTAB |
Zornitza Stark gene: GNPTAB was added gene: GNPTAB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTAB were set to Mucolipidosis II |
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| Genomic newborn screening: BabyScreen+ v0.0 | GNE |
Zornitza Stark gene: GNE was added gene: GNE was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GNAS |
Zornitza Stark gene: GNAS was added gene: GNAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNAS was set to Unknown Phenotypes for gene: GNAS were set to Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism |
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| Genomic newborn screening: BabyScreen+ v0.0 | GLUD1 |
Zornitza Stark gene: GLUD1 was added gene: GLUD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLUD1 were set to Hyperinsulinism, MIM#606762 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GLRB |
Zornitza Stark gene: GLRB was added gene: GLRB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLRB were set to Hyperekplexia 2, MIM# 614619 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GLRA1 |
Zornitza Stark gene: GLRA1 was added gene: GLRA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GLIS3 |
Zornitza Stark gene: GLIS3 was added gene: GLIS3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GLI3 |
Zornitza Stark gene: GLI3 was added gene: GLI3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | GLDC |
Zornitza Stark gene: GLDC was added gene: GLDC was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GLB1 |
Zornitza Stark gene: GLB1 was added gene: GLB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to Gangliosidosis GM1 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GLA |
Zornitza Stark gene: GLA was added gene: GLA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GLA were set to Fabry disease |
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| Genomic newborn screening: BabyScreen+ v0.0 | GJC2 |
Zornitza Stark gene: GJC2 was added gene: GJC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GJC2 were set to Pelizaeus-Merzbacher-like disease |
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| Genomic newborn screening: BabyScreen+ v0.0 | GJB2 |
Zornitza Stark gene: GJB2 was added gene: GJB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJB2 were set to Deafness and palmoplantar keratoderma; Deafness |
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| Genomic newborn screening: BabyScreen+ v0.0 | GJB1 |
Zornitza Stark gene: GJB1 was added gene: GJB1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GJA1 |
Zornitza Stark gene: GJA1 was added gene: GJA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia |
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| Genomic newborn screening: BabyScreen+ v0.0 | GIPC3 |
Zornitza Stark gene: GIPC3 was added gene: GIPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIPC3 were set to Hearing loss |
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| Genomic newborn screening: BabyScreen+ v0.0 | GIF |
Zornitza Stark Source Expert list was added to GIF. Added phenotypes Intrinsic factor deficiency # 261000 for gene: GIF |
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| Genomic newborn screening: BabyScreen+ v0.0 | GGCX |
Zornitza Stark gene: GGCX was added gene: GGCX was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GFPT1 |
Zornitza Stark gene: GFPT1 was added gene: GFPT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle, MIM#610542 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GFM1 |
Zornitza Stark gene: GFM1 was added gene: GFM1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GFAP |
Zornitza Stark gene: GFAP was added gene: GFAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GFAP were set to Alexander disease |
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| Genomic newborn screening: BabyScreen+ v0.0 | GDAP1 |
Zornitza Stark gene: GDAP1 was added gene: GDAP1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GCK |
Zornitza Stark gene: GCK was added gene: GCK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial, MIM#602485 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GCH1 |
Zornitza Stark gene: GCH1 was added gene: GCH1 was added to gNBS. Sources: BeginNGS,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, MIM# 128230 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GCDH |
Zornitza Stark gene: GCDH was added gene: GCDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCDH were set to Glutaric aciduria, type I, MIM#231670 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GBA |
Zornitza Stark gene: GBA was added gene: GBA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to Gaucher disease 1 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GATA4 |
Zornitza Stark gene: GATA4 was added gene: GATA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA4 were set to Congenital heart defects |
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| Genomic newborn screening: BabyScreen+ v0.0 | GATA3 |
Zornitza Stark gene: GATA3 was added gene: GATA3 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GATA2 |
Zornitza Stark gene: GATA2 was added gene: GATA2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA2 were set to PMID: 25397911, 30047422 Phenotypes for gene: GATA2 were set to Immunodeficiency 21 MIM# 614172; Emberger syndrome MIM# 614038 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GATA1 |
Zornitza Stark gene: GATA1 was added gene: GATA1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GATA1 were set to Blackfan-Diamond anaemia, ORPHA:124; Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Congenital erythropoietic porphyria, ORPHA:79277; Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GAN |
Zornitza Stark gene: GAN was added gene: GAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAN were set to Giant axonal neuropathy |
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| Genomic newborn screening: BabyScreen+ v0.0 | GAMT |
Zornitza Stark gene: GAMT was added gene: GAMT was added to gNBS. Sources: BeginNGS,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, MIM# 612736 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GALT |
Zornitza Stark gene: GALT was added gene: GALT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALT were set to Galactosaemia, MIM#230400 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GALNS |
Zornitza Stark gene: GALNS was added gene: GALNS was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GALK1 |
Zornitza Stark gene: GALK1 was added gene: GALK1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts, MIM#230200 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GALE |
Zornitza Stark gene: GALE was added gene: GALE was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALE were set to Galactose epimerase deficiency , MIM#230350 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GALC |
Zornitza Stark gene: GALC was added gene: GALC was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | GAA |
Zornitza Stark gene: GAA was added gene: GAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#232300 |
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| Genomic newborn screening: BabyScreen+ v0.0 | G6PD |
Zornitza Stark gene: G6PD was added gene: G6PD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency, MIM#300908 |
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| Genomic newborn screening: BabyScreen+ v0.0 | G6PC3 |
Zornitza Stark gene: G6PC3 was added gene: G6PC3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC3 were set to Neutropaenia, congenital, MIM#612541 |
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| Genomic newborn screening: BabyScreen+ v0.0 | G6PC |
Zornitza Stark gene: G6PC was added gene: G6PC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#232200 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FXN |
Zornitza Stark gene: FXN was added gene: FXN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreich ataxia |
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| Genomic newborn screening: BabyScreen+ v0.0 | FUCA1 |
Zornitza Stark gene: FUCA1 was added gene: FUCA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUCA1 were set to Fucosidosis |
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| Genomic newborn screening: BabyScreen+ v0.0 | FTL |
Zornitza Stark gene: FTL was added gene: FTL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FTL were set to Neuroferritinopathy |
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| Genomic newborn screening: BabyScreen+ v0.0 | FRAS1 |
Zornitza Stark gene: FRAS1 was added gene: FRAS1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FOXP3 |
Zornitza Stark gene: FOXP3 was added gene: FOXP3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FOXP3 were set to IPEX syndrome, MIM#304790 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FOXN1 |
Zornitza Stark gene: FOXN1 was added gene: FOXN1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FOXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy , MIM#601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM# 618806 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FOXI1 |
Zornitza Stark gene: FOXI1 was added gene: FOXI1 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXI1 were set to sensorineural deafness and distal renal tubular acidosis |
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| Genomic newborn screening: BabyScreen+ v0.0 | FOXF1 |
Zornitza Stark gene: FOXF1 was added gene: FOXF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins |
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| Genomic newborn screening: BabyScreen+ v0.0 | FOXC2 |
Zornitza Stark gene: FOXC2 was added gene: FOXC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXC2 were set to Lymphoedema, primary |
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| Genomic newborn screening: BabyScreen+ v0.0 | FOXC1 |
Zornitza Stark gene: FOXC1 was added gene: FOXC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXC1 were set to Axenfeld-Rieger syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | FOXA2 |
Zornitza Stark gene: FOXA2 was added gene: FOXA2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FOXA2 were set to Combined pituitary hormone deficiencies, genetic forms, ORPHA:95494; Congenital isolated hyperinsulinism, ORPHA:657 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FLNA |
Zornitza Stark gene: FLNA was added gene: FLNA was added to gNBS. Sources: BabySeq Category A gene,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 Otopalatodigital spectrum disorder |
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| Genomic newborn screening: BabyScreen+ v0.0 | FLCN |
Zornitza Stark gene: FLCN was added gene: FLCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | FLAD1 |
Zornitza Stark gene: FLAD1 was added gene: FLAD1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FKTN |
Zornitza Stark gene: FKTN was added gene: FKTN was added to gNBS. Sources: BabySeq Category A gene,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, Fukuyama; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies |
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| Genomic newborn screening: BabyScreen+ v0.0 | FKRP |
Zornitza Stark gene: FKRP was added gene: FKRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKRP were set to Muscle-eye-brain disease; Muscular dystrophy, limb girdle 2I |
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| Genomic newborn screening: BabyScreen+ v0.0 | FH |
Zornitza Stark gene: FH was added gene: FH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to Fumurase deficiency MIM# 606812 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FGG |
Zornitza Stark gene: FGG was added gene: FGG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGG were set to Afibrinogenaemia |
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| Genomic newborn screening: BabyScreen+ v0.0 | FGFR3 |
Zornitza Stark gene: FGFR3 was added gene: FGFR3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR3 were set to Muenke syndrome; Thanatophoric dysplasia type 1; Crouzon syndrome with acanthosis nigricans; LADD syndrome; Hypochondroplasia; Achondroplasia; CATSHL syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | FGFR2 |
Zornitza Stark gene: FGFR2 was added gene: FGFR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR2 were set to Jackson-Weiss syndrome; Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; Beare-Stevenson cutis gyrata syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | FGFR1 |
Zornitza Stark gene: FGFR1 was added gene: FGFR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR1 were set to Kallmann syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | FGF3 |
Zornitza Stark gene: FGF3 was added gene: FGF3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGF3 were set to Deafness, congenital with inner ear agenesis, microtia, and microdontia |
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| Genomic newborn screening: BabyScreen+ v0.0 | FGD4 |
Zornitza Stark gene: FGD4 was added gene: FGD4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease |
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| Genomic newborn screening: BabyScreen+ v0.0 | FGD1 |
Zornitza Stark gene: FGD1 was added gene: FGD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FGD1 were set to Aarskog-Scott syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | FGB |
Zornitza Stark gene: FGB was added gene: FGB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGB were set to Afibrinogenaemia |
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| Genomic newborn screening: BabyScreen+ v0.0 | FGA |
Zornitza Stark gene: FGA was added gene: FGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGA were set to Afibrinogenaemia |
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| Genomic newborn screening: BabyScreen+ v0.0 | FERMT3 |
Zornitza Stark gene: FERMT3 was added gene: FERMT3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FBP1 |
Zornitza Stark gene: FBP1 was added gene: FBP1 was added to gNBS. Sources: Expert list,BeginNGS,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 MIM# 229700 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FBN2 |
Zornitza Stark gene: FBN2 was added gene: FBN2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FBN2 were set to 33571691 Phenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital MIM#121050 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FBN1 |
Zornitza Stark gene: FBN1 was added gene: FBN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBN1 were set to Marfan's syndrome; Weill-Marchesani syndrome 2, dominant; Shprintzen-Goldberg syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | FAS |
Zornitza Stark gene: FAS was added gene: FAS was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA, MIM# 601859 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FANCL |
Zornitza Stark gene: FANCL was added gene: FANCL was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCL were set to Fanconi anaemia, MIM#614083 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FANCI |
Zornitza Stark gene: FANCI was added gene: FANCI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCI were set to Fanconi anaemia, MIM#609053 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FANCG |
Zornitza Stark gene: FANCG was added gene: FANCG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCG were set to Fanconi anaemia, MIM#614082 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FANCF |
Zornitza Stark gene: FANCF was added gene: FANCF was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCF were set to Fanconi anaemia, MIM#603467 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FANCE |
Zornitza Stark gene: FANCE was added gene: FANCE was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCE were set to Fanconi anaemia, MIM#600901 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FANCD2 |
Zornitza Stark gene: FANCD2 was added gene: FANCD2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCD2 were set to Fanconi anaemia, MIM#227646 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FANCC |
Zornitza Stark gene: FANCC was added gene: FANCC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCC were set to Fanconi anaemia, MIM#227645 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FANCB |
Zornitza Stark gene: FANCB was added gene: FANCB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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 anaemia, MIM#300514 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FANCA |
Zornitza Stark gene: FANCA was added gene: FANCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCA were set to Fanconi anaemia, MIM#227650 |
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| Genomic newborn screening: BabyScreen+ v0.0 | FAM58A |
Zornitza Stark gene: FAM58A was added gene: FAM58A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FAM58A were set to Syndactyly - telecanthus - anogenital and renal malformations |
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| Genomic newborn screening: BabyScreen+ v0.0 | FAM20C |
Zornitza Stark gene: FAM20C was added gene: FAM20C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM20C were set to Osteosclerotic bone dysplasia |
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| Genomic newborn screening: BabyScreen+ v0.0 | FAM161A |
Zornitza Stark gene: FAM161A was added gene: FAM161A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM161A were set to Retinal dystrophy |
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| Genomic newborn screening: BabyScreen+ v0.0 | FAM126A |
Zornitza Stark gene: FAM126A was added gene: FAM126A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM126A were set to Hypomyelination and congenital cataract |
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| Genomic newborn screening: BabyScreen+ v0.0 | FAH |
Zornitza Stark gene: FAH was added gene: FAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinaemia, type I, MIM#276700 |
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| Genomic newborn screening: BabyScreen+ v0.0 | F9 |
Zornitza Stark gene: F9 was added gene: F9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: F9 were set to Haemophilia B, MIM#306900 |
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| Genomic newborn screening: BabyScreen+ v0.0 | F8 |
Zornitza Stark gene: F8 was added gene: F8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: F8 were set to Haemophilia A, MIM#306700 |
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| Genomic newborn screening: BabyScreen+ v0.0 | F7 |
Zornitza Stark gene: F7 was added gene: F7 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F7 were set to Factor VII deficiency MIM# 227500 |
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| Genomic newborn screening: BabyScreen+ v0.0 | F5 |
Zornitza Stark gene: F5 was added gene: F5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: F5 were set to Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055 |
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| Genomic newborn screening: BabyScreen+ v0.0 | F2 |
Zornitza Stark gene: F2 was added gene: F2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F2 were set to Prothrombin deficiency, MIM#613679 |
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| Genomic newborn screening: BabyScreen+ v0.0 | F13B |
Zornitza Stark gene: F13B was added gene: F13B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F13B were set to Factor XIIIB deficiency, MIM# 613235 |
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| Genomic newborn screening: BabyScreen+ v0.0 | F13A1 |
Zornitza Stark gene: F13A1 was added gene: F13A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM# 613225 |
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| Genomic newborn screening: BabyScreen+ v0.0 | F11 |
Zornitza Stark gene: F11 was added gene: F11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F11 were set to Factor XI deficiency |
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| Genomic newborn screening: BabyScreen+ v0.0 | F10 |
Zornitza Stark gene: F10 was added gene: F10 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F10 were set to Factor X deficiency, MIM# 227600 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EZH2 |
Zornitza Stark gene: EZH2 was added gene: EZH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EZH2 were set to Weaver syndrome 2 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EYA4 |
Zornitza Stark gene: EYA4 was added gene: EYA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA4 were set to Deafness, autosomal dominant |
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| Genomic newborn screening: BabyScreen+ v0.0 | EYA1 |
Zornitza Stark gene: EYA1 was added gene: EYA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | EXT2 |
Zornitza Stark gene: EXT2 was added gene: EXT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EXT1 |
Zornitza Stark gene: EXT1 was added gene: EXT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EXT1 were set to Exostoses, multiple, type 1 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EVC2 |
Zornitza Stark gene: EVC2 was added gene: EVC2 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EVC |
Zornitza Stark gene: EVC was added gene: EVC was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ETHE1 |
Zornitza Stark gene: ETHE1 was added gene: ETHE1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#602473 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ETFDH |
Zornitza Stark gene: ETFDH was added gene: ETFDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#231680 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ETFB |
Zornitza Stark gene: ETFB was added gene: ETFB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#231680 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ETFA |
Zornitza Stark gene: ETFA was added gene: ETFA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFA were set to Glutaric acidaemia IIA, MIM#231680 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ESRRB |
Zornitza Stark gene: ESRRB was added gene: ESRRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ESRRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESRRB were set to Hearing loss |
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| Genomic newborn screening: BabyScreen+ v0.0 | ESPN |
Zornitza Stark gene: ESPN was added gene: ESPN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESPN were set to 26445815; 28281779; 10975527; 18973245; 15930085; 15286153 Phenotypes for gene: ESPN were set to Deafness, autosomal recessive 36, MIM# 609006 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ESCO2 |
Zornitza Stark gene: ESCO2 was added gene: ESCO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESCO2 were set to Roberts syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | ERCC8 |
Zornitza Stark gene: ERCC8 was added gene: ERCC8 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ERCC6 |
Zornitza Stark gene: ERCC6 was added gene: ERCC6 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ERCC5 |
Zornitza Stark gene: ERCC5 was added gene: ERCC5 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ERCC4 |
Zornitza Stark gene: ERCC4 was added gene: ERCC4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to Xeroderma pigmentosum, group F, MIM# 278760; Fanconi anaemia, complementation group Q, MIM# 615272 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ERCC2 |
Zornitza Stark gene: ERCC2 was added gene: ERCC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum |
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| Genomic newborn screening: BabyScreen+ v0.0 | EPS8L2 |
Zornitza Stark gene: EPS8L2 was added gene: EPS8L2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPS8L2 were set to Deafness, MIM#617637 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EPS8 |
Zornitza Stark gene: EPS8 was added gene: EPS8 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPS8 were set to deafness MIM#600205 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EPM2A |
Zornitza Stark gene: EPM2A was added gene: EPM2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) |
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| Genomic newborn screening: BabyScreen+ v0.0 | ENPP1 |
Zornitza Stark gene: ENPP1 was added gene: ENPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ENG |
Zornitza Stark gene: ENG was added gene: ENG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EMD |
Zornitza Stark gene: EMD was added gene: EMD was added to gNBS. Sources: BabySeq Category A gene,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 Muscular dystrophy, Emery-Dreifuss |
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| Genomic newborn screening: BabyScreen+ v0.0 | ELP1 |
Zornitza Stark gene: ELP1 was added gene: ELP1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ELN |
Zornitza Stark gene: ELN was added gene: ELN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELN were set to Supravalvar aortic stenosis |
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| Genomic newborn screening: BabyScreen+ v0.0 | ELANE |
Zornitza Stark gene: ELANE was added gene: ELANE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELANE were set to Neutropenia, congenital, MIM#202700 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EIF2AK3 |
Zornitza Stark gene: EIF2AK3 was added gene: EIF2AK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#226980 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EGR2 |
Zornitza Stark gene: EGR2 was added gene: EGR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease |
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| Genomic newborn screening: BabyScreen+ v0.0 | EFTUD2 |
Zornitza Stark gene: EFTUD2 was added gene: EFTUD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly |
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| Genomic newborn screening: BabyScreen+ v0.0 | EFL1 |
Zornitza Stark gene: EFL1 was added gene: EFL1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EDNRB |
Zornitza Stark gene: EDNRB was added gene: EDNRB was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EDNRB were set to Waardenburg syndrome, type 4A, MIM# 277580 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EDN3 |
Zornitza Stark gene: EDN3 was added gene: EDN3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: EDN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDN3 were set to Waardenburg syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | EDARADD |
Zornitza Stark gene: EDARADD was added gene: EDARADD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic |
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| Genomic newborn screening: BabyScreen+ v0.0 | EDAR |
Zornitza Stark gene: EDAR was added gene: EDAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDAR were set to Ectodermal dysplasia, hypohidrotic |
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| Genomic newborn screening: BabyScreen+ v0.0 | EDA |
Zornitza Stark gene: EDA was added gene: EDA was added to gNBS. Sources: BabySeq Category A gene,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, hypohidrotic |
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| Genomic newborn screening: BabyScreen+ v0.0 | DYSF |
Zornitza Stark gene: DYSF was added gene: DYSF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYSF were set to Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B |
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| Genomic newborn screening: BabyScreen+ v0.0 | DUOXA2 |
Zornitza Stark gene: DUOXA2 was added gene: DUOXA2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DUOX2 |
Zornitza Stark gene: DUOX2 was added gene: DUOX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis |
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| Genomic newborn screening: BabyScreen+ v0.0 | DSP |
Zornitza Stark gene: DSP was added gene: DSP was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis , MIM#615821 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DPAGT1 |
Zornitza Stark gene: DPAGT1 was added gene: DPAGT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM#614750 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DOLK |
Zornitza Stark gene: DOLK was added gene: DOLK was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 30653653; 22242004; 23890587; 17273964; 28816422; 24144945 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, MIM# 610768; DK1-CDG, MONDO:0012556 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DOK7 |
Zornitza Stark gene: DOK7 was added gene: DOK7 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOK7 were set to Congenital myasthenic syndrome, MIM# 254300 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DOCK8 |
Zornitza Stark gene: DOCK8 was added gene: DOCK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category A gene,BegniNGS Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK8 were set to Hyper-IgE syndrome, MIM#243700 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DNMT3B |
Zornitza Stark gene: DNMT3B was added gene: DNMT3B was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DNM2 |
Zornitza Stark gene: DNM2 was added gene: DNM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear |
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| Genomic newborn screening: BabyScreen+ v0.0 | DNAJB6 |
Zornitza Stark gene: DNAJB6 was added gene: DNAJB6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb girdle |
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| Genomic newborn screening: BabyScreen+ v0.0 | DNAI1 |
Zornitza Stark gene: DNAI1 was added gene: DNAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia |
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| Genomic newborn screening: BabyScreen+ v0.0 | DNAH5 |
Zornitza Stark gene: DNAH5 was added gene: DNAH5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH5 were set to Primary ciliary dyskinesia |
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| Genomic newborn screening: BabyScreen+ v0.0 | DNAH11 |
Zornitza Stark gene: DNAH11 was added gene: DNAH11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia |
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| Genomic newborn screening: BabyScreen+ v0.0 | DNAAF1 |
Zornitza Stark gene: DNAAF1 was added gene: DNAAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia |
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| Genomic newborn screening: BabyScreen+ v0.0 | DMXL2 |
Zornitza Stark gene: DMXL2 was added gene: DMXL2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DMPK |
Zornitza Stark gene: DMPK was added gene: DMPK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DMPK were set to Myotonic dystrophy 1 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DMP1 |
Zornitza Stark gene: DMP1 was added gene: DMP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR |
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| Genomic newborn screening: BabyScreen+ v0.0 | DMD |
Zornitza Stark gene: DMD was added gene: DMD was added to gNBS. Sources: BeginNGS,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, MIM# 310200 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DLL3 |
Zornitza Stark gene: DLL3 was added gene: DLL3 was added to gNBS. Sources: BabySeq Category A gene,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, autosomal recessive, 1 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DLD |
Zornitza Stark gene: DLD was added gene: DLD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to Maple syrup urine disease, type III, MIM#246900 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DKC1 |
Zornitza Stark gene: DKC1 was added gene: DKC1 was added to gNBS. Sources: BeginNGS,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, MIM# 305000 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DIAPH1 |
Zornitza Stark gene: DIAPH1 was added gene: DIAPH1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DHCR7 |
Zornitza Stark gene: DHCR7 was added gene: DHCR7 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DGUOK |
Zornitza Stark gene: DGUOK was added gene: DGUOK was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DGAT1 |
Zornitza Stark gene: DGAT1 was added gene: DGAT1 was added to gNBS. Sources: BeginNGS,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 , MIM# 615863 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DFNB59 |
Zornitza Stark gene: DFNB59 was added gene: DFNB59 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DFNB59 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DFNB59 were set to Hearing loss |
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| Genomic newborn screening: BabyScreen+ v0.0 | DFNA5 |
Zornitza Stark gene: DFNA5 was added gene: DFNA5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DFNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DFNA5 were set to Hearing loss |
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| Genomic newborn screening: BabyScreen+ v0.0 | DDC |
Zornitza Stark gene: DDC was added gene: DDC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#608643 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DDB2 |
Zornitza Stark gene: DDB2 was added gene: DDB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDB2 were set to Xeroderma pigmentosum |
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| Genomic newborn screening: BabyScreen+ v0.0 | DCX |
Zornitza Stark gene: DCX was added gene: DCX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene 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, MIM# 300067 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DCLRE1C |
Zornitza Stark gene: DCLRE1C was added gene: DCLRE1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#603554 |
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| Genomic newborn screening: BabyScreen+ v0.0 | DBT |
Zornitza Stark gene: DBT was added gene: DBT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#248600 |
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| Genomic newborn screening: BabyScreen+ v0.0 | D2HGDH |
Zornitza Stark gene: D2HGDH was added gene: D2HGDH was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CYP4F22 |
Zornitza Stark gene: CYP4F22 was added gene: CYP4F22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive |
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| Genomic newborn screening: BabyScreen+ v0.0 | CYP27B1 |
Zornitza Stark gene: CYP27B1 was added gene: CYP27B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I |
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| Genomic newborn screening: BabyScreen+ v0.0 | CYP27A1 |
Zornitza Stark gene: CYP27A1 was added gene: CYP27A1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CYP21A2 |
Zornitza Stark gene: CYP21A2 was added gene: CYP21A2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CYP17A1 |
Zornitza Stark gene: CYP17A1 was added gene: CYP17A1 was added to gNBS. Sources: BeginNGS,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 , MIM#202110 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CYP11B2 |
Zornitza Stark gene: CYP11B2 was added gene: CYP11B2 was added to gNBS. Sources: BeginNGS,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, MIM# 203400; Hypoaldosteronism, congenital, due to CMO II deficiency, MIM# 610600 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CYP11B1 |
Zornitza Stark gene: CYP11B1 was added gene: CYP11B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CYP11A1 |
Zornitza Stark gene: CYP11A1 was added gene: CYP11A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#613743 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CYBB |
Zornitza Stark gene: CYBB was added gene: CYBB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#306400 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CYBA |
Zornitza Stark gene: CYBA was added gene: CYBA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#233690 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CXCR4 |
Zornitza Stark gene: CXCR4 was added gene: CXCR4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CXCR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CXCR4 were set to WHIM syndrome 1, MIM# 193670 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CUL7 |
Zornitza Stark gene: CUL7 was added gene: CUL7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUL7 were set to 3-M syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | CUBN |
Zornitza Stark gene: CUBN was added gene: CUBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUBN were set to Megaloblastic anaemia-1, Finnish type, MIM#261100 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CTSK |
Zornitza Stark gene: CTSK was added gene: CTSK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSK were set to Pycnodysostosis |
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| Genomic newborn screening: BabyScreen+ v0.0 | CTSD |
Zornitza Stark gene: CTSD was added gene: CTSD was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CTPS1 |
Zornitza Stark gene: CTPS1 was added gene: CTPS1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, MIM# 615897 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CTNS |
Zornitza Stark gene: CTNS was added gene: CTNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTNS were set to Cystinosis |
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| Genomic newborn screening: BabyScreen+ v0.0 | CTC1 |
Zornitza Stark gene: CTC1 was added gene: CTC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTC1 were set to Coats plus syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | CSTB |
Zornitza Stark gene: CSTB was added gene: CSTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A |
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| Genomic newborn screening: BabyScreen+ v0.0 | CSF3R |
Zornitza Stark gene: CSF3R was added gene: CSF3R was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CSF3R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CSF3R were set to Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014; Neutrophilia, hereditary , MIM# 162830 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CSF2RA |
Zornitza Stark gene: CSF2RA was added gene: CSF2RA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CSF2RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF2RA were set to 25425184; 18955570; 20622029 Phenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CRTAP |
Zornitza Stark gene: CRTAP was added gene: CRTAP was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CRLF1 |
Zornitza Stark gene: CRLF1 was added gene: CRLF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRLF1 were set to Crisponi syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | CREBBP |
Zornitza Stark gene: CREBBP was added gene: CREBBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | CPT2 |
Zornitza Stark gene: CPT2 was added gene: CPT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to Carnitine palmitoyltransferase 2 deficiency |
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| Genomic newborn screening: BabyScreen+ v0.0 | CPT1A |
Zornitza Stark gene: CPT1A was added gene: CPT1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I deficiency, MIM#255120 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CPS1 |
Zornitza Stark gene: CPS1 was added gene: CPS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#237300 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CPOX |
Zornitza Stark gene: CPOX was added gene: CPOX was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CPOX were set to Coproporphyria , MIM#121300 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COQ9 |
Zornitza Stark gene: COQ9 was added gene: COQ9 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5 , MIM#614654 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COQ8B |
Zornitza Stark gene: COQ8B was added gene: COQ8B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, MIM# 615573 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COQ8A |
Zornitza Stark gene: COQ8A was added gene: COQ8A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM# 612016 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COQ7 |
Zornitza Stark gene: COQ7 was added gene: COQ7 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM# 616733 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COQ6 |
Zornitza Stark gene: COQ6 was added gene: COQ6 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, MIM# 614650 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COQ4 |
Zornitza Stark gene: COQ4 was added gene: COQ4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM# 616276 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COQ2 |
Zornitza Stark gene: COQ2 was added gene: COQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM# 607426 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COLQ |
Zornitza Stark gene: COLQ was added gene: COLQ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome, MIM#603034 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL9A3 |
Zornitza Stark gene: COL9A3 was added gene: COL9A3 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL9A3 were set to Stickler syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL9A2 |
Zornitza Stark gene: COL9A2 was added gene: COL9A2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL9A1 |
Zornitza Stark gene: COL9A1 was added gene: COL9A1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL7A1 |
Zornitza Stark gene: COL7A1 was added gene: COL7A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL7A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL6A3 |
Zornitza Stark gene: COL6A3 was added gene: COL6A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL6A2 |
Zornitza Stark gene: COL6A2 was added gene: COL6A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL6A1 |
Zornitza Stark gene: COL6A1 was added gene: COL6A1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL5A2 |
Zornitza Stark gene: COL5A2 was added gene: COL5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL5A1 |
Zornitza Stark gene: COL5A1 was added gene: COL5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, type I |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL4A5 |
Zornitza Stark gene: COL4A5 was added gene: COL4A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: COL4A5 were set to Alport syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL4A4 |
Zornitza Stark gene: COL4A4 was added gene: COL4A4 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL4A3 |
Zornitza Stark gene: COL4A3 was added gene: COL4A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL4A3 were set to Alport syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL3A1 |
Zornitza Stark gene: COL3A1 was added gene: COL3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL2A1 |
Zornitza Stark gene: COL2A1 was added gene: COL2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL2A1 were set to Stickler syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL1A2 |
Zornitza Stark gene: COL1A2 was added gene: COL1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type II |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL1A1 |
Zornitza Stark gene: COL1A1 was added gene: COL1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL17A1 |
Zornitza Stark gene: COL17A1 was added gene: COL17A1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL13A1 |
Zornitza Stark gene: COL13A1 was added gene: COL13A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, MIM# 616720 |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL11A2 |
Zornitza Stark gene: COL11A2 was added gene: COL11A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL11A2 were set to Otospondylomegaepiphyseal dysplasia |
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| Genomic newborn screening: BabyScreen+ v0.0 | COL11A1 |
Zornitza Stark gene: COL11A1 was added gene: COL11A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL11A1 were set to Stickler syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | COG5 |
Zornitza Stark gene: COG5 was added gene: COG5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG5 were set to 32174980; 23228021; 31572517 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi |
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| Genomic newborn screening: BabyScreen+ v0.0 | COCH |
Zornitza Stark gene: COCH was added gene: COCH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COCH were set to 21046548; 26256111; 9806553; 16151338; 28099493; 22931125; 18312449; 28116169; 28733840; 17561763; 18697796; 32562050; 29449721; 32939038; 22610276 Phenotypes for gene: COCH were set to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CNGB3 |
Zornitza Stark gene: CNGB3 was added gene: CNGB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNGB3 were set to Achromatopsia-3 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CLRN1 |
Zornitza Stark gene: CLRN1 was added gene: CLRN1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CLPP |
Zornitza Stark gene: CLPP was added gene: CLPP was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPP were set to 25254289; 27087618; 27899912; 23541340 Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CLN8 |
Zornitza Stark gene: CLN8 was added gene: CLN8 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CLN6 |
Zornitza Stark gene: CLN6 was added gene: CLN6 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CLN5 |
Zornitza Stark gene: CLN5 was added gene: CLN5 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CLN3 |
Zornitza Stark gene: CLN3 was added gene: CLN3 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CLDN19 |
Zornitza Stark gene: CLDN19 was added gene: CLDN19 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement |
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| Genomic newborn screening: BabyScreen+ v0.0 | CLDN14 |
Zornitza Stark gene: CLDN14 was added gene: CLDN14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive |
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| Genomic newborn screening: BabyScreen+ v0.0 | CLCN7 |
Zornitza Stark gene: CLCN7 was added gene: CLCN7 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, MIM# 611490 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CLCN5 |
Zornitza Stark gene: CLCN5 was added gene: CLCN5 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CIB2 |
Zornitza Stark gene: CIB2 was added gene: CIB2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIB2 were set to 27344577; 26473954; 26445815; 23023331; 26173970; 26226137 Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CHRNG |
Zornitza Stark gene: CHRNG was added gene: CHRNG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNG were set to Pterygium syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | CHRNE |
Zornitza Stark gene: CHRNE was added gene: CHRNE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Congenital myasthenic syndrome, MIM#605809 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CHRND |
Zornitza Stark gene: CHRND was added gene: CHRND was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRND were set to Congenital myasthenic syndrome, MIM#616321 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CHRNB1 |
Zornitza Stark gene: CHRNB1 was added gene: CHRNB1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CHRNA1 |
Zornitza Stark gene: CHRNA1 was added gene: CHRNA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome, MIM#601462 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CHM |
Zornitza Stark gene: CHM was added gene: CHM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CHM were set to Choroideremia |
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| Genomic newborn screening: BabyScreen+ v0.0 | CHKB |
Zornitza Stark gene: CHKB was added gene: CHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type |
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| Genomic newborn screening: BabyScreen+ v0.0 | CHD7 |
Zornitza Stark gene: CHD7 was added gene: CHD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD7 were set to CHARGE syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | CHD2 |
Zornitza Stark gene: CHD2 was added gene: CHD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD2 were set to Developmental delay, intellectual disability, epilepsy |
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| Genomic newborn screening: BabyScreen+ v0.0 | CHAT |
Zornitza Stark gene: CHAT was added gene: CHAT was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHAT were set to Congenital myasthenic syndrome, MIM#254210 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CFTR |
Zornitza Stark gene: CFTR was added gene: CFTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#219700 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CFP |
Zornitza Stark gene: CFP was added gene: CFP was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CFP were set to Properdin deficiency, X-linked, MIM#312060 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CFD |
Zornitza Stark gene: CFD was added gene: CFD was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFD were set to Complement factor D deficiency, MIM# 613912 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CFB |
Zornitza Stark gene: CFB was added gene: CFB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFB were set to Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CFL2 |
Zornitza Stark gene: CFL2 was added gene: CFL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFL2 were set to Nemaline myopathy |
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| Genomic newborn screening: BabyScreen+ v0.0 | CFC1 |
Zornitza Stark gene: CFC1 was added gene: CFC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFC1 were set to Congenital heart defects |
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| Genomic newborn screening: BabyScreen+ v0.0 | CEP83 |
Zornitza Stark gene: CEP83 was added gene: CEP83 was added to gNBS. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 33938610; 24882706 Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; ID; MONDO:0014374; Retinal dystrophy |
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| Genomic newborn screening: BabyScreen+ v0.0 | CEP78 |
Zornitza Stark gene: CEP78 was added gene: CEP78 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss |
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| Genomic newborn screening: BabyScreen+ v0.0 | CEP290 |
Zornitza Stark gene: CEP290 was added gene: CEP290 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CEP152 |
Zornitza Stark gene: CEP152 was added gene: CEP152 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CDT1 |
Zornitza Stark gene: CDT1 was added gene: CDT1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDT1 were set to 22333897; 21358632; 21358631; 33338304 Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CDSN |
Zornitza Stark gene: CDSN was added gene: CDSN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDSN were set to Hypotrichosis |
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| Genomic newborn screening: BabyScreen+ v0.0 | CDKN1C |
Zornitza Stark gene: CDKN1C was added gene: CDKN1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, MIM#130650 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CDKL5 |
Zornitza Stark gene: CDKL5 was added gene: CDKL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CDK5RAP2 |
Zornitza Stark gene: CDK5RAP2 was added gene: CDK5RAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CDH23 |
Zornitza Stark gene: CDH23 was added gene: CDH23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDH23 were set to Deafness, autosomal recessive; Usher syndrome, type 1D |
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| Genomic newborn screening: BabyScreen+ v0.0 | CDC14A |
Zornitza Stark gene: CDC14A was added gene: CDC14A was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CDAN1 |
Zornitza Stark gene: CDAN1 was added gene: CDAN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I |
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| Genomic newborn screening: BabyScreen+ v0.0 | CD79B |
Zornitza Stark gene: CD79B was added gene: CD79B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CD79B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD79B were set to Agammaglobulinaemia 6, MIM# 612692 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CD79A |
Zornitza Stark gene: CD79A was added gene: CD79A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CD79A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD79A were set to Agammaglobulinaemia 3, MIM# 613501 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CD40LG |
Zornitza Stark gene: CD40LG was added gene: CD40LG was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CD3E |
Zornitza Stark gene: CD3E was added gene: CD3E was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CD3E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD3E were set to Immunodeficiency 18, MIM# 615615 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CD3D |
Zornitza Stark gene: CD3D was added gene: CD3D was added to gNBS. Sources: Expert list,BeginNGS,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, MIM# 615617 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CCDC40 |
Zornitza Stark gene: CCDC40 was added gene: CCDC40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia |
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| Genomic newborn screening: BabyScreen+ v0.0 | CCDC39 |
Zornitza Stark gene: CCDC39 was added gene: CCDC39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia |
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| Genomic newborn screening: BabyScreen+ v0.0 | CC2D2A |
Zornitza Stark gene: CC2D2A was added gene: CC2D2A was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CBS |
Zornitza Stark gene: CBS was added gene: CBS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types |
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| Genomic newborn screening: BabyScreen+ v0.0 | GIF |
Zornitza Stark gene: GIF was added gene: GIF was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIF were set to Intrinsic factor deficiency, MIM# 261000 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CBL |
Zornitza Stark gene: CBL was added gene: CBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia |
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| Genomic newborn screening: BabyScreen+ v0.0 | CAVIN1 |
Zornitza Stark gene: CAVIN1 was added gene: CAVIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CAV3 |
Zornitza Stark gene: CAV3 was added gene: CAV3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CAV3 were set to Caveolinopathy; Muscular dystrophy, limb-girdle, type IC |
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| Genomic newborn screening: BabyScreen+ v0.0 | CASR |
Zornitza Stark gene: CASR was added gene: CASR was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM# 239200 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CASQ2 |
Zornitza Stark gene: CASQ2 was added gene: CASQ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic |
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| Genomic newborn screening: BabyScreen+ v0.0 | CASK |
Zornitza Stark gene: CASK was added gene: CASK was added to gNBS. Sources: BabySeq Category A gene,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 and microcephaly with pontine and cerebellar hypoplasia |
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| Genomic newborn screening: BabyScreen+ v0.0 | CARD11 |
Zornitza Stark gene: CARD11 was added gene: CARD11 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CARD11 were set to 23374270; 28628108; 23561803; 12818158 Phenotypes for gene: CARD11 were set to Immunodeficiency 11A, MIM# 615206 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CAPN3 |
Zornitza Stark gene: CAPN3 was added gene: CAPN3 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CACNA1F |
Zornitza Stark gene: CACNA1F was added gene: CACNA1F was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked |
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| Genomic newborn screening: BabyScreen+ v0.0 | CACNA1D |
Zornitza Stark gene: CACNA1D was added gene: CACNA1D was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1D were set to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CACNA1C |
Zornitza Stark gene: CACNA1C was added gene: CACNA1C was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1C were set to Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CACNA1A |
Zornitza Stark gene: CACNA1A was added gene: CACNA1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CABP2 |
Zornitza Stark gene: CABP2 was added gene: CABP2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899 |
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| Genomic newborn screening: BabyScreen+ v0.0 | CA2 |
Zornitza Stark gene: CA2 was added gene: CA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis |
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| Genomic newborn screening: BabyScreen+ v0.0 | CA5A |
Zornitza Stark gene: CA5A was added gene: CA5A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA5A were set to Hyperammonaemia due to carbonic anhydrase VA deficiency, MIM# 615751 |
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| Genomic newborn screening: BabyScreen+ v0.0 | C9 |
Zornitza Stark gene: C9 was added gene: C9 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C9 were set to C9 deficiency, MIM# 613825 |
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| Genomic newborn screening: BabyScreen+ v0.0 | C8B |
Zornitza Stark gene: C8B was added gene: C8B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C8B were set to C8 deficiency, type II, MIM# 613789 |
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| Genomic newborn screening: BabyScreen+ v0.0 | C8A |
Zornitza Stark gene: C8A was added gene: C8A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C8A were set to C8 deficiency, type I, MIM# 613790 |
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| Genomic newborn screening: BabyScreen+ v0.0 | C7 |
Zornitza Stark gene: C7 was added gene: C7 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C7 were set to C7 deficiency, MIM# 610102 |
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| Genomic newborn screening: BabyScreen+ v0.0 | C6 |
Zornitza Stark gene: C6 was added gene: C6 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C6 were set to C6 deficiency, MIM# 612446 |
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| Genomic newborn screening: BabyScreen+ v0.0 | C5 |
Zornitza Stark gene: C5 was added gene: C5 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C5 were set to C5 deficiency, MIM# 609536 |
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| Genomic newborn screening: BabyScreen+ v0.0 | C3 |
Zornitza Stark gene: C3 was added gene: C3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C3 were set to C3 deficiency, MIM# 613779 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BTK |
Zornitza Stark gene: BTK was added gene: BTK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, X-linked 1, MIM#300755 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BTD |
Zornitza Stark gene: BTD was added gene: BTD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BTD were set to Biotinidase deficiency, MIM#253260 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BSND |
Zornitza Stark gene: BSND was added gene: BSND was added to gNBS. Sources: BabySeq Category A gene,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 with sensorineural deafness |
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| Genomic newborn screening: BabyScreen+ v0.0 | BSCL2 |
Zornitza Stark gene: BSCL2 was added gene: BSCL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2, MIM# 269700; Berardinelli-Seip lipodystrophy |
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| Genomic newborn screening: BabyScreen+ v0.0 | BRIP1 |
Zornitza Stark gene: BRIP1 was added gene: BRIP1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRIP1 were set to Fanconi anaemia, complementation group J, MIM# 609054 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BRCA2 |
Zornitza Stark gene: BRCA2 was added gene: BRCA2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA2 were set to Fanconi anaemia, complementation group D, MIM#1 605724 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BRAF |
Zornitza Stark gene: BRAF was added gene: BRAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome, MIM# 115150; Noonan syndrome 7, MIM# 613706 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BMPR1A |
Zornitza Stark gene: BMPR1A was added gene: BMPR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BMPR1A were set to Polyposis, juvenile intestinal, MIM# 174900 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BLNK |
Zornitza Stark gene: BLNK was added gene: BLNK was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: BLNK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLNK were set to Agammaglobulinaemia 4, MIM#613502 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BLM |
Zornitza Stark gene: BLM was added gene: BLM was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BIN1 |
Zornitza Stark gene: BIN1 was added gene: BIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive |
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| Genomic newborn screening: BabyScreen+ v0.0 | BICD2 |
Zornitza Stark gene: BICD2 was added gene: BICD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy |
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| Genomic newborn screening: BabyScreen+ v0.0 | BCS1L |
Zornitza Stark gene: BCS1L was added gene: BCS1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to Complex 3 deficiency |
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| Genomic newborn screening: BabyScreen+ v0.0 | BCKDK |
Zornitza Stark gene: BCKDK was added gene: BCKDK was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDK were set to Branched-chain keto acid dehydrogenase kinase deficiency, MIM# 614923 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BCKDHB |
Zornitza Stark gene: BCKDHB was added gene: BCKDHB was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BCKDHA |
Zornitza Stark gene: BCKDHA was added gene: BCKDHA was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BCHE |
Zornitza Stark gene: BCHE was added gene: BCHE was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM# 617936 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BBS9 |
Zornitza Stark gene: BBS9 was added gene: BBS9 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BBS7 |
Zornitza Stark gene: BBS7 was added gene: BBS7 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BBS5 |
Zornitza Stark gene: BBS5 was added gene: BBS5 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BBS4 |
Zornitza Stark gene: BBS4 was added gene: BBS4 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BBS2 |
Zornitza Stark gene: BBS2 was added gene: BBS2 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BBS12 |
Zornitza Stark gene: BBS12 was added gene: BBS12 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BBS10 |
Zornitza Stark gene: BBS10 was added gene: BBS10 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BBS1 |
Zornitza Stark gene: BBS1 was added gene: BBS1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | BAAT |
Zornitza Stark gene: BAAT was added gene: BAAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BAAT were set to Bile acid amidation defect |
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| Genomic newborn screening: BabyScreen+ v0.0 | B3GLCT |
Zornitza Stark gene: B3GLCT was added gene: B3GLCT was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AVPR2 |
Zornitza Stark gene: AVPR2 was added gene: AVPR2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic, MIM#304800 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AUH |
Zornitza Stark gene: AUH was added gene: AUH was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ATRX |
Zornitza Stark gene: ATRX was added gene: ATRX was added to gNBS. Sources: BabySeq Category A gene,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 Alpha-thalassemia/mental retardation syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | ATP8B1 |
Zornitza Stark gene: ATP8B1 was added gene: ATP8B1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ATP7B |
Zornitza Stark gene: ATP7B was added gene: ATP7B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP7B were set to Wilson disease |
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| Genomic newborn screening: BabyScreen+ v0.0 | ATP7A |
Zornitza Stark gene: ATP7A was added gene: ATP7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene 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, MIM# 309400 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ATP6V1B1 |
Zornitza Stark gene: ATP6V1B1 was added gene: ATP6V1B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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 & hearing loss, MIM#267300 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ATP6V0A4 |
Zornitza Stark gene: ATP6V0A4 was added gene: ATP6V0A4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V0A4 were set to Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ATP6V0A2 |
Zornitza Stark gene: ATP6V0A2 was added gene: ATP6V0A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA |
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| Genomic newborn screening: BabyScreen+ v0.0 | ATP2B2 |
Zornitza Stark gene: ATP2B2 was added gene: ATP2B2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP2B2 were set to Deafness, childhood onset |
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| Genomic newborn screening: BabyScreen+ v0.0 | ATP2A1 |
Zornitza Stark gene: ATP2A1 was added gene: ATP2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP2A1 were set to Brody myopathy |
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| Genomic newborn screening: BabyScreen+ v0.0 | ATP1A2 |
Zornitza Stark gene: ATP1A2 was added gene: ATP1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP1A2 were set to Hemiplegic migraine |
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| Genomic newborn screening: BabyScreen+ v0.0 | ATM |
Zornitza Stark gene: ATM was added gene: ATM was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ASS1 |
Zornitza Stark gene: ASS1 was added gene: ASS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASS1 were set to Citrullinemia, MIM#215700 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ASPA |
Zornitza Stark gene: ASPA was added gene: ASPA was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ASL |
Zornitza Stark gene: ASL was added gene: ASL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#207900 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ARX |
Zornitza Stark gene: ARX was added gene: ARX was added to gNBS. Sources: BabySeq Category A gene,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 Lissencephaly, X-linked 2 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ARSB |
Zornitza Stark gene: ARSB was added gene: ARSB was added to gNBS. Sources: BabySeq Category A gene,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) |
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| Genomic newborn screening: BabyScreen+ v0.0 | ARSA |
Zornitza Stark gene: ARSA was added gene: ARSA was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ARPC1B |
Zornitza Stark gene: ARPC1B was added gene: ARPC1B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ARMC4 |
Zornitza Stark gene: ARMC4 was added gene: ARMC4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARMC4 were set to Primary ciliary dyskinesia |
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| Genomic newborn screening: BabyScreen+ v0.0 | ARID1B |
Zornitza Stark gene: ARID1B was added gene: ARID1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | ARG1 |
Zornitza Stark gene: ARG1 was added gene: ARG1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARG1 were set to Arginase deficiency, MIM#207800 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ARFGEF2 |
Zornitza Stark gene: ARFGEF2 was added gene: ARFGEF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly |
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| Genomic newborn screening: BabyScreen+ v0.0 | AR |
Zornitza Stark gene: AR was added gene: AR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AR were set to Androgen insensitivity, MIM# 300068 |
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| Genomic newborn screening: BabyScreen+ v0.0 | APTX |
Zornitza Stark gene: APTX was added gene: APTX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
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| Genomic newborn screening: BabyScreen+ v0.0 | APRT |
Zornitza Stark gene: APRT was added gene: APRT was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM# 614723 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AQP2 |
Zornitza Stark gene: AQP2 was added gene: AQP2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 2, MIM#125800 |
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| Genomic newborn screening: BabyScreen+ v0.0 | APOB |
Zornitza Stark gene: APOB was added gene: APOB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOB were set to Apolipoprotein B deficiency |
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| Genomic newborn screening: BabyScreen+ v0.0 | APC |
Zornitza Stark gene: APC was added gene: APC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APC were set to Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated |
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| Genomic newborn screening: BabyScreen+ v0.0 | AP4M1 |
Zornitza Stark gene: AP4M1 was added gene: AP4M1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4M1 were set to 31915823; 32979048; 19559397; 25496299; 21937992; 28464862; 29096665 Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, MIM# 612936 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AP4E1 |
Zornitza Stark gene: AP4E1 was added gene: AP4E1 was added to gNBS. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4E1 were set to 20972249; 32979048; 23472171; 21620353; 21937992 Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AP4B1 |
Zornitza Stark gene: AP4B1 was added gene: AP4B1 was added to gNBS. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 24700674; 32979048; 32166732; 32171285; 22290197; 21620353; 31525725; 24781758 Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AP3B1 |
Zornitza Stark gene: AP3B1 was added gene: AP3B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ANTXR2 |
Zornitza Stark gene: ANTXR2 was added gene: ANTXR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | ANO10 |
Zornitza Stark gene: ANO10 was added gene: ANO10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ANKRD26 |
Zornitza Stark gene: ANKRD26 was added gene: ANKRD26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ANKH |
Zornitza Stark gene: ANKH was added gene: ANKH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKH were set to Craniometaphyseal dysplasia |
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| Genomic newborn screening: BabyScreen+ v0.0 | ANK2 |
Zornitza Stark gene: ANK2 was added gene: ANK2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Green Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANK2 were set to Complex neurodevelopmental disorder, MONDO:0100038 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ANK1 |
Zornitza Stark gene: ANK1 was added gene: ANK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANK1 were set to Spherocytosis |
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| Genomic newborn screening: BabyScreen+ v0.0 | AMT |
Zornitza Stark gene: AMT was added gene: AMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMT were set to Hyperglycinaemia, non-ketotic |
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| Genomic newborn screening: BabyScreen+ v0.0 | AMN |
Zornitza Stark gene: AMN was added gene: AMN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, MIM#618882 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AMELX |
Zornitza Stark gene: AMELX was added gene: AMELX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AMELX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AMELX were set to Amelogenesis imperfecta |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALX4 |
Zornitza Stark gene: ALX4 was added gene: ALX4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ALX4 were set to Parietal foramina 2 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALS2 |
Zornitza Stark gene: ALS2 was added gene: ALS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALS2 were set to Amyotrophic lateral sclerosis |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALPL |
Zornitza Stark gene: ALPL was added gene: ALPL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to Hypophosphatasia, MIM#241500 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALOXE3 |
Zornitza Stark gene: ALOXE3 was added gene: ALOXE3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALOX12B |
Zornitza Stark gene: ALOX12B was added gene: ALOX12B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALMS1 |
Zornitza Stark gene: ALMS1 was added gene: ALMS1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALG9 |
Zornitza Stark gene: ALG9 was added gene: ALG9 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG9 were set to 26453364; 25966638; 28932688 Phenotypes for gene: ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Congenital disorder of glycosylation, type Il, MIM#608776 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALG8 |
Zornitza Stark gene: ALG8 was added gene: ALG8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALG6 |
Zornitza Stark gene: ALG6 was added gene: ALG6 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALG3 |
Zornitza Stark gene: ALG3 was added gene: ALG3 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALG14 |
Zornitza Stark gene: ALG14 was added gene: ALG14 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG14 were set to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALG12 |
Zornitza Stark gene: ALG12 was added gene: ALG12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALG1 |
Zornitza Stark gene: ALG1 was added gene: ALG1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALDOB |
Zornitza Stark gene: ALDOB was added gene: ALDOB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,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, MIM#229600 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALDH7A1 |
Zornitza Stark gene: ALDH7A1 was added gene: ALDH7A1 was added to gNBS. Sources: Expert list,BeginNGS,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, MIM# 266100 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALDH5A1 |
Zornitza Stark gene: ALDH5A1 was added gene: ALDH5A1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALDH3A2 |
Zornitza Stark gene: ALDH3A2 was added gene: ALDH3A2 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALDH18A1 |
Zornitza Stark gene: ALDH18A1 was added gene: ALDH18A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALB |
Zornitza Stark gene: ALB was added gene: ALB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALB were set to Analbuminemia |
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| Genomic newborn screening: BabyScreen+ v0.0 | ALAS2 |
Zornitza Stark gene: ALAS2 was added gene: ALAS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked |
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| Genomic newborn screening: BabyScreen+ v0.0 | AKR1D1 |
Zornitza Stark gene: AKR1D1 was added gene: AKR1D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AK2 |
Zornitza Stark gene: AK2 was added gene: AK2 was added to gNBS. Sources: BeginNGS,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, MIM# 267500 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AIRE |
Zornitza Stark gene: AIRE was added gene: AIRE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia |
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| Genomic newborn screening: BabyScreen+ v0.0 | AIFM1 |
Zornitza Stark gene: AIFM1 was added gene: AIFM1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AHI1 |
Zornitza Stark gene: AHI1 was added gene: AHI1 was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AHCY |
Zornitza Stark gene: AHCY was added gene: AHCY was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: AHCY was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AGXT |
Zornitza Stark gene: AGXT was added gene: AGXT was added to gNBS. Sources: BabySeq Category A gene,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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | AGRN |
Zornitza Stark gene: AGRN was added gene: AGRN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial, MIM#615120 |
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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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| Genomic newborn screening: BabyScreen+ v0.0 | Zornitza Stark Added panel gNBS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||