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| Genomic newborn screening: BabyScreen+ v1.56 | F10 |
Zornitza Stark changed review comment from: Well established gene-disease association. Variable severity: for review. Affected individuals can manifest prolonged nasal and mucosal haemorrhage, menorrhagia, haematuria, and occasionally hemarthrosis. Treatment: plasma-derived factor 10 concentrate (Coagadex); to: Well established gene-disease association. Affected individuals can manifest prolonged nasal and mucosal haemorrhage, menorrhagia, haematuria, and occasionally hemarthrosis. Treatment: plasma-derived factor 10 concentrate (Coagadex) |
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| Genomic newborn screening: BabyScreen+ v0.2038 | NFKBIA |
Zornitza Stark gene: NFKBIA was added gene: NFKBIA was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: NFKBIA. Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NFKBIA were set to Ectodermal dysplasia and immunodeficiency 2 MIM# 612132 Review for gene: NFKBIA was set to GREEN Added comment: 12 heterozygous variants were identified in 15 unrelated individuals (de novo in 14 individuals and somatic mosaicism in 1 individual). Functional studies & two mouse models; demonstrate reported NFKBIA gain-of-function variants resulting in impaired NFKB1 activity. The majority of individuals displayed recurrent infections, chronic diarrhoea, agammaglobulinaemia, increased IgM, and defects in teeth (hair, nail, sweat glands). Onset is generally in infancy. Treatment: BMT. Non-genetic confirmatory testing: no Sources: Expert list |
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| Genomic newborn screening: BabyScreen+ v0.2000 | IKBKB |
Zornitza Stark changed review comment from: Primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinaemia with relatively normal numbers of B and T cells. Treatment: bone marrow transplant. Sources: Expert list; to: Primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinaemia with relatively normal numbers of B and T cells. Treatment: bone marrow transplant. Limited evidence for mono-allelic disease. Sources: Expert list |
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| Genomic newborn screening: BabyScreen+ v0.1999 | IKBKB |
Zornitza Stark gene: IKBKB was added gene: IKBKB was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: IKBKB. Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IKBKB were set to Immunodeficiency 15B, MIM# 615592 Review for gene: IKBKB was set to GREEN Added comment: Primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinaemia with relatively normal numbers of B and T cells. Treatment: bone marrow transplant. Sources: Expert list |
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| Genomic newborn screening: BabyScreen+ v0.1952 | ZBTB24 |
Lilian Downie gene: ZBTB24 was added gene: ZBTB24 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB24 were set to PMID: 28128455, 21906047, 21596365, 23486536 Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069 Review for gene: ZBTB24 was set to AMBER Added comment: INfant onset Agammaglobulinemia, facial anomalies, and mental retardation. Facial anomalies included broad, flat nasal bridge, hypertelorism, and epicanthal folds. Treat immunoglobulin and bone marrow transplant however, this only treats the immune deficiency Consider exclusion due to untreatable ID phenotype? Sources: Expert list |
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| Genomic newborn screening: BabyScreen+ v0.1834 | GLA |
Zornitza Stark changed review comment from: Assessed as 'moderate actionability' in paediatric patients by ClinGen. In classic FD, the first symptoms, including chronic neuropathic pain and episodic severe pain crises, emerge during childhood (typically age 3-10 years). Heterozygous females typically have a later median age of onset than males (9-13 years versus 13-23 years). Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype. Cardiac and/or cerebrovascular disease is present in most males by middle age while ESRD usually develops during the third to fifth decade. Renal and cardiac failure represent major sources of morbidity, and account for the reduced lifespan among affected males (50-58 years) and females (70-75 years) compared to the normal population. A systematic review of RCTs of ERT reported on nine studies of 351 FD patients; however, many of these studies reported only on the effect of ERT on levels of enzyme substrate. Data from 2 trials (n=39 males) found no statistically significant differences in plasma enzyme substrate and one trial (n=24 males) found no statistical differences in renal function between individuals treated with agalsidase alfa and placebo (up to 6-month follow-up). Similar results were seen for agalsidase beta. One trial of 26 male patients found a statistically significant difference in pain, favoring agalsidase alfa compared to placebo at 5-6 months after treatment. No trial reported on the effect of agalsidase alfa on mortality or cardiac/cerebrovascular disease. One trial of agalsidase beta (n=82 males and females) found no difference in mortality, renal function, or symptoms or complications of cardiac or cerebrovascular disease over 18 months. The long-term influence of ERT on risk of morbidity and mortality related to FD remains to be established. Migalastat, an oral chaperone drug, is recommended as an option for treatment for some patients with FD who are over 16 years with an amenable genetic variant who would usually be offered ERT. For non-amenable genotypes, migalastat may result in a net loss of alpha-Gal A activity, potentially worsening the disease condition. A systematic review evaluated 2 phase III RCTs that both included males and females. One RCT randomized patients to switch from ERT to migalastat (n = 36) or continue with ERT (n = 24) during an 18-month period with a 12-month extension in which all patients received migalastat. During the treatment period, the percentage of patients who had a renal, cardiac, or cerebrovascular event or died was 29% of patients on migalastat compared to 44% of patients on ERT. However, this difference was not statistically significant. A second RCT compared migalastat (n=34) with placebo (n=33) over a 6-month period, with an 18-month extension study. The primary outcome was change from baseline in interstitial capillary inclusions of the enzyme substrate globotriaosylceramide (GL-3), which was not significantly different between groups. Results from both trials indicate that migalastat does not have a significant beneficial effect on pain, health-related quality of life outcomes, or glomerular filtration rate (results were uncertain due to large confidence intervals, small sample sizes, and/or short follow-up time). Migalastat did not influence left ventricular ejection fraction but did improve left ventricular mass over 18 months. There are a number of recommendations for surveillance and agents to avoid (amiodarone). There is no consensus as to when ERT should be started.; to: Assessed as 'moderate actionability' in paediatric patients by ClinGen. In classic FD, the first symptoms, including chronic neuropathic pain and episodic severe pain crises, emerge during childhood (typically age 3-10 years). Heterozygous females typically have a later median age of onset than males (9-13 years versus 13-23 years). Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype. Cardiac and/or cerebrovascular disease is present in most males by middle age while ESRD usually develops during the third to fifth decade. Renal and cardiac failure represent major sources of morbidity, and account for the reduced lifespan among affected males (50-58 years) and females (70-75 years) compared to the normal population. A systematic review of RCTs of ERT reported on nine studies of 351 FD patients; however, many of these studies reported only on the effect of ERT on levels of enzyme substrate. Data from 2 trials (n=39 males) found no statistically significant differences in plasma enzyme substrate and one trial (n=24 males) found no statistical differences in renal function between individuals treated with agalsidase alfa and placebo (up to 6-month follow-up). Similar results were seen for agalsidase beta. One trial of 26 male patients found a statistically significant difference in pain, favoring agalsidase alfa compared to placebo at 5-6 months after treatment. No trial reported on the effect of agalsidase alfa on mortality or cardiac/cerebrovascular disease. One trial of agalsidase beta (n=82 males and females) found no difference in mortality, renal function, or symptoms or complications of cardiac or cerebrovascular disease over 18 months. The long-term influence of ERT on risk of morbidity and mortality related to FD remains to be established. Migalastat, an oral chaperone drug, is recommended as an option for treatment for some patients with FD who are over 16 years with an amenable genetic variant who would usually be offered ERT. For non-amenable genotypes, migalastat may result in a net loss of alpha-Gal A activity, potentially worsening the disease condition. A systematic review evaluated 2 phase III RCTs that both included males and females. One RCT randomized patients to switch from ERT to migalastat (n = 36) or continue with ERT (n = 24) during an 18-month period with a 12-month extension in which all patients received migalastat. During the treatment period, the percentage of patients who had a renal, cardiac, or cerebrovascular event or died was 29% of patients on migalastat compared to 44% of patients on ERT. However, this difference was not statistically significant. A second RCT compared migalastat (n=34) with placebo (n=33) over a 6-month period, with an 18-month extension study. The primary outcome was change from baseline in interstitial capillary inclusions of the enzyme substrate globotriaosylceramide (GL-3), which was not significantly different between groups. Results from both trials indicate that migalastat does not have a significant beneficial effect on pain, health-related quality of life outcomes, or glomerular filtration rate (results were uncertain due to large confidence intervals, small sample sizes, and/or short follow-up time). Migalastat did not influence left ventricular ejection fraction but did improve left ventricular mass over 18 months. There are a number of recommendations for surveillance and agents to avoid (amiodarone). There is no consensus as to when ERT should be started. Note ERT is licensed in Australia from age 7 years. However, carbamazepine relieves neuropathic pain, which has onset in early childhood. Overall, include. |
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| Genomic newborn screening: BabyScreen+ v0.1701 | GLA |
Zornitza Stark changed review comment from: For review: screen only for males or include both?; to: Assessed as 'moderate actionability' in paediatric patients by ClinGen. In classic FD, the first symptoms, including chronic neuropathic pain and episodic severe pain crises, emerge during childhood (typically age 3-10 years). Heterozygous females typically have a later median age of onset than males (9-13 years versus 13-23 years). Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype. Cardiac and/or cerebrovascular disease is present in most males by middle age while ESRD usually develops during the third to fifth decade. Renal and cardiac failure represent major sources of morbidity, and account for the reduced lifespan among affected males (50-58 years) and females (70-75 years) compared to the normal population. A systematic review of RCTs of ERT reported on nine studies of 351 FD patients; however, many of these studies reported only on the effect of ERT on levels of enzyme substrate. Data from 2 trials (n=39 males) found no statistically significant differences in plasma enzyme substrate and one trial (n=24 males) found no statistical differences in renal function between individuals treated with agalsidase alfa and placebo (up to 6-month follow-up). Similar results were seen for agalsidase beta. One trial of 26 male patients found a statistically significant difference in pain, favoring agalsidase alfa compared to placebo at 5-6 months after treatment. No trial reported on the effect of agalsidase alfa on mortality or cardiac/cerebrovascular disease. One trial of agalsidase beta (n=82 males and females) found no difference in mortality, renal function, or symptoms or complications of cardiac or cerebrovascular disease over 18 months. The long-term influence of ERT on risk of morbidity and mortality related to FD remains to be established. Migalastat, an oral chaperone drug, is recommended as an option for treatment for some patients with FD who are over 16 years with an amenable genetic variant who would usually be offered ERT. For non-amenable genotypes, migalastat may result in a net loss of alpha-Gal A activity, potentially worsening the disease condition. A systematic review evaluated 2 phase III RCTs that both included males and females. One RCT randomized patients to switch from ERT to migalastat (n = 36) or continue with ERT (n = 24) during an 18-month period with a 12-month extension in which all patients received migalastat. During the treatment period, the percentage of patients who had a renal, cardiac, or cerebrovascular event or died was 29% of patients on migalastat compared to 44% of patients on ERT. However, this difference was not statistically significant. A second RCT compared migalastat (n=34) with placebo (n=33) over a 6-month period, with an 18-month extension study. The primary outcome was change from baseline in interstitial capillary inclusions of the enzyme substrate globotriaosylceramide (GL-3), which was not significantly different between groups. Results from both trials indicate that migalastat does not have a significant beneficial effect on pain, health-related quality of life outcomes, or glomerular filtration rate (results were uncertain due to large confidence intervals, small sample sizes, and/or short follow-up time). Migalastat did not influence left ventricular ejection fraction but did improve left ventricular mass over 18 months. There are a number of recommendations for surveillance and agents to avoid (amiodarone). There is no consensus as to when ERT should be started. |
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| Genomic newborn screening: BabyScreen+ v0.1556 | PIK3R1 | Zornitza Stark reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31111319, 33401995, 34033842; Phenotypes: Immunodeficiency 36, MIM# 616005, Agammaglobulinemia 7, autosomal recessive , MIM# 615214; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1541 | TCF3 | Seb Lunke Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1539 | TCF3 | Seb Lunke reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941, Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1420 | SLC39A7 | Zornitza Stark reviewed gene: SLC39A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1331 | SLC37A4 |
Seb Lunke edited their review of gene: SLC37A4: Added comment: Established gene-disease association. Childhood onset, metabolic disorder Treatment: corn starch, nighttime intragastric continuous glucose infusion, allopurinol, statin, granulocyte-colony stimulating factor (G-CSF), empagliflozin Non-genetic confirmatory test: no; Changed phenotypes: Glycogen storage disease Ib, MIM# 232220, Glycogen storage disease Ic, MIM# 232240, Congenital disorder of glycosylation, type IIw, MIM# 619525 |
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| Genomic newborn screening: BabyScreen+ v0.1316 | SLC39A7 |
Seb Lunke gene: SLC39A7 was added gene: SLC39A7 was added to gNBS. Sources: Literature Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A7 were set to 30718914 Phenotypes for gene: SLC39A7 were set to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693 Added comment: Established gene-disease association. Childhood onset, primary immunodeficiency Treatment: Bone marrow transplant (hematopoietic stem cell transplantation (HSCT)), replacement immunoglobulin treatment Non-genetic confirmatory test: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile Sources: Literature |
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| Genomic newborn screening: BabyScreen+ v0.1247 | IGLL1 | Zornitza Stark reviewed gene: IGLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 2, MIM# 613500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1245 | IGHM | Zornitza Stark reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 1, MIM# 601495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.604 | CD79B | Zornitza Stark reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinemia 6 MIM#612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.603 | CD79A | Zornitza Stark reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 3, MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.555 | SDHD | Zornitza Stark Phenotypes for gene: SDHD were changed from Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Paragangliomas 1, with or without deafness, MIM# 168000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.553 | SDHD | Zornitza Stark reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.548 | SDHD | Seb Lunke Phenotypes for gene: SDHD were changed from Hereditary Paraganglioma-Pheochromocytoma Syndromes to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.415 | NAGA | Zornitza Stark Marked gene: NAGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.415 | NAGA | Zornitza Stark Gene: naga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.415 | NAGA | Zornitza Stark Phenotypes for gene: NAGA were changed from N-acetylgalactosaminidase alpha deficiency to Kanzaki disease, MIM# 609242 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.414 | NAGA | Zornitza Stark Classified gene: NAGA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.414 | NAGA | Zornitza Stark Gene: naga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.413 | NAGA | Zornitza Stark reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kanzaki disease, MIM# 609242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.317 | MED25 | Zornitza Stark reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.288 | BTK |
Zornitza Stark changed review comment from: Well established gene-disease association. Childhood onset. Treatable with IVIG.; to: Well established gene-disease association with isolated agammaglobulinaemia. At least 3 families reported with associated GH deficiency, which is also treatable. Childhood onset. Treatable with IVIG. |
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| Genomic newborn screening: BabyScreen+ v0.288 | BTK | Zornitza Stark edited their review of gene: BTK: Changed phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755, Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.288 | BTK | Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.274 | NAGA | David Amor reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kanzaki disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.270 | MED25 | David Amor reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagaite-Smirin-Yosef Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.197 | BLNK | Zornitza Stark reviewed gene: BLNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 10583958, 32194234, 25893637; Phenotypes: Agammaglobulinaemia 4, MIM# 613502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.18 | AGA | Zornitza Stark Marked gene: AGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.18 | AGA | Zornitza Stark Gene: aga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.18 | AGA | Zornitza Stark Phenotypes for gene: AGA were changed from Aspartylglucosaminuria to Aspartylglucosaminuria, MIM# 208400 MONDO:0008830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.17 | AGA | Zornitza Stark Classified gene: AGA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.17 | AGA | Zornitza Stark Gene: aga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.16 | AGA | Zornitza Stark reviewed gene: AGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartylglucosaminuria, MIM# 208400 MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | SDHC |
Zornitza Stark gene: SDHC was added gene: SDHC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| Genomic newborn screening: BabyScreen+ v0.0 | SDHB |
Zornitza Stark gene: SDHB was added gene: SDHB was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHB were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| Genomic newborn screening: BabyScreen+ v0.0 | SDHAF2 |
Zornitza Stark gene: SDHAF2 was added gene: SDHAF2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHAF2 were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| Genomic newborn screening: BabyScreen+ v0.0 | TCF3 |
Zornitza Stark gene: TCF3 was added gene: TCF3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TCF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TCF3 were set to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 |
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| Genomic newborn screening: BabyScreen+ v0.0 | SDHD |
Zornitza Stark gene: SDHD was added gene: SDHD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| Genomic newborn screening: BabyScreen+ v0.0 | PIK3R1 |
Zornitza Stark gene: PIK3R1 was added gene: PIK3R1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, MIM# 615214; Immunodeficiency 36, MIM# 616005 |
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| Genomic newborn screening: BabyScreen+ v0.0 | NAGA |
Zornitza Stark gene: NAGA was added gene: NAGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGA were set to N-acetylgalactosaminidase alpha deficiency |
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| Genomic newborn screening: BabyScreen+ v0.0 | MED25 |
Zornitza Stark gene: MED25 was added gene: MED25 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 25792360; 32816121 Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 |
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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 | 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 | 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 | 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 | 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 | 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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