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| Additional findings_Paediatric v0.256 | SLC41A1 | Zornitza Stark Phenotypes for gene: SLC41A1 were changed from Parkinson disease, idiopathic to Nephronophthisis-like nephropathy 2, MIM# 619468 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.124 | AR | Kristin Rigbye reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Androgen insensitivity (MIM#300068), XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.124 | AR | Kristin Rigbye reviewed gene: AR: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity (MIM#300068), XLR; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.106 | F13B |
Lilian Downie changed review comment from: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature. Sources: Expert list; to: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature, only a milder bleeding phenotype post surgery in heterozygotes? Insufficient evidence for inclusion? Sources: Expert list |
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| Additional findings_Paediatric v0.106 | HADH | Zornitza Stark Phenotypes for gene: HADH were changed from 3-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4 to Hyperinsulinemic hypoglycemia, familial, 4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.101 | GIF |
Lilian Downie gene: GIF was added gene: GIF was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIF were set to Intrinsic factor deficiency # 261000 Added comment: Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia. Childhood onset disease treatable with B12 injections. Not reviewed by Babyseq, on NC NEXUS list. Sources: Expert list |
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| Additional findings_Paediatric v0.101 | HADH | Lilian Downie reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.101 | HNF4A | Lilian Downie reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoglycaemia, hyperinsulinaemic; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.70 | INS | Zornitza Stark Marked gene: INS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.70 | INS | Zornitza Stark Gene: ins has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.70 | INS | Zornitza Stark Classified gene: INS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.70 | INS | Zornitza Stark Gene: ins has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.69 | INS |
Lilian Downie gene: INS was added gene: INS was added to Newborn Screening_BabySeq. Sources: Expert list 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 Review for gene: INS was set to GREEN Added comment: Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life. Not assessed by Babyseq, included in NC NEXUS list. Sources: Expert list |
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| Additional findings_Paediatric v0.66 | NTRK1 | Zornitza Stark Phenotypes for gene: NTRK1 were changed from Medullary thyroid carcinoma, familial; Congenital insensitivity to pain with anhidrosis to Congenital insensitivity to pain with anhidrosis MIM#256800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.47 | NTRK1 | Lilian Downie reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.12 | AR | Zornitza Stark Phenotypes for gene: AR were changed from Spinal and bulbar muscular atrophy of Kennedy; Androgen insensitivity to Androgen insensitivity, MIM# 300068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.10 | AR | Zornitza Stark reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity, MIM# 300068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | UCP2 |
Zornitza Stark gene: UCP2 was added gene: UCP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: UCP2 were set to Hyperinsulinism |
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| Additional findings_Paediatric v0.2 | TRPM2 |
Zornitza Stark gene: TRPM2 was added gene: TRPM2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TRPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRPM2 were set to ALS and Parkinson's disease |
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| Additional findings_Paediatric v0.2 | SLC41A1 |
Zornitza Stark gene: SLC41A1 was added gene: SLC41A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC41A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC41A1 were set to Parkinson disease, idiopathic |
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| Additional findings_Paediatric v0.2 | MAPT |
Zornitza Stark gene: MAPT was added gene: MAPT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism |
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| Additional findings_Paediatric v0.2 | LRRK2 |
Zornitza Stark gene: LRRK2 was added gene: LRRK2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LRRK2 were set to Parkinson disease |
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| Additional findings_Paediatric v0.2 | IRS1 |
Zornitza Stark gene: IRS1 was added gene: IRS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: IRS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IRS1 were set to Diabetes mellitus, noninsulin dependent |
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| Additional findings_Paediatric v0.2 | IGF1 |
Zornitza Stark gene: IGF1 was added gene: IGF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGF1 were set to Insulin-like growth factor deficiency |
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| Additional findings_Paediatric v0.2 | HOXA1 |
Zornitza Stark gene: HOXA1 was added gene: HOXA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome |
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| Additional findings_Paediatric v0.2 | HNF4A |
Zornitza Stark gene: HNF4A was added gene: HNF4A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF4A were set to Hypoglycaemia, hyperinsulinaemic |
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| Additional findings_Paediatric v0.2 | COX4I2 |
Zornitza Stark gene: COX4I2 was added gene: COX4I2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis |
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| Additional findings_Paediatric v0.2 | ATP1A3 |
Zornitza Stark gene: ATP1A3 was added gene: ATP1A3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP1A3 were set to Rapid-onset dystonia-parkinsonism |
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| Additional findings_Paediatric v0.2 | AKT2 |
Zornitza Stark gene: AKT2 was added gene: AKT2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT2 were set to Severe insulin resistance and diabetes mellitus |
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| Additional findings_Paediatric v0.2 | TCOF1 |
Zornitza Stark gene: TCOF1 was added gene: TCOF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1 |
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| Additional findings_Paediatric v0.2 | PRKAG2 |
Zornitza Stark gene: PRKAG2 was added gene: PRKAG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAG2 were set to Wolff-Parkinson-White syndrome |
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| Additional findings_Paediatric v0.2 | PINK1 |
Zornitza Stark gene: PINK1 was added gene: PINK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset |
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| Additional findings_Paediatric v0.2 | NTRK1 |
Zornitza Stark gene: NTRK1 was added gene: NTRK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NTRK1 were set to Congenital insensitivity to pain with anhidrosis |
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| Additional findings_Paediatric v0.2 | KCNJ11 |
Zornitza Stark gene: KCNJ11 was added gene: KCNJ11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial |
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| Additional findings_Paediatric v0.2 | INSR |
Zornitza Stark gene: INSR was added gene: INSR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene 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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| Additional findings_Paediatric v0.2 | HADH |
Zornitza Stark gene: HADH was added gene: HADH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A 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 |
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| Additional findings_Paediatric v0.2 | GLUD1 | Zornitza Stark Added phenotypes Hyperinsulinism for gene: GLUD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | GCK | Zornitza Stark Added phenotypes Hyperinsulinemic hypoglycemia, familial for gene: GCK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FOXF1 | Zornitza Stark Added phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins for gene: FOXF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | DNMT3B | Zornitza Stark Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1 for gene: DNMT3B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CYP11A1 | Zornitza Stark Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete for gene: CYP11A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CREBBP | Zornitza Stark Added phenotypes Rubinstein-Taybi syndrome for gene: CREBBP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | AVPR2 | Zornitza Stark Added phenotypes Diabetes insipidus, nephrogenic for gene: AVPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | AR | Zornitza Stark Added phenotypes Androgen insensitivity for gene: AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ABCC8 | Zornitza Stark Added phenotypes Hyperinsulinemic hypoglycemia, familial for gene: ABCC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | GLUD1 |
Zornitza Stark gene: GLUD1 was added gene: GLUD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLUD1 were set to Hyperinsulinism |
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| Additional findings_Paediatric v0.0 | GCK |
Zornitza Stark gene: GCK was added gene: GCK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene 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 |
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| Additional findings_Paediatric v0.0 | FOXF1 |
Zornitza Stark gene: FOXF1 was added gene: FOXF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene 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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| Additional findings_Paediatric v0.0 | DNMT3B |
Zornitza Stark gene: DNMT3B was added gene: DNMT3B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene 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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| Additional findings_Paediatric v0.0 | CYP11A1 |
Zornitza Stark gene: CYP11A1 was added gene: CYP11A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene 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 |
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| Additional findings_Paediatric v0.0 | CREBBP |
Zornitza Stark gene: CREBBP was added gene: CREBBP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene 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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| Additional findings_Paediatric v0.0 | AVPR2 |
Zornitza Stark gene: AVPR2 was added gene: AVPR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene 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 |
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| Additional findings_Paediatric v0.0 | AR |
Zornitza Stark gene: AR was added gene: AR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A 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 |
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| Additional findings_Paediatric v0.0 | ABCC8 |
Zornitza Stark gene: ABCC8 was added gene: ABCC8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial |
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