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| BabyScreen+ newborn screening v1.114 | PIEZO2 | Tommy Li Added phenotypes Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146; Arthrogryposis, distal, type 5 (MIM#108145); Arthrogryposis, distal, type 3 (MIM#114300); Marden-Walker syndrome (MIM#248700) for gene: PIEZO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | ALK | Tommy Li Added phenotypes {Neuroblastoma, susceptibility to, 3} MIM#613014 for gene: ALK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | HGD |
Tommy Li Added phenotypes Alkaptonuria MIM#203500 for gene: HGD Publications for gene HGD were updated from 34344451; 12501223 to 12501223; 34344451 |
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| BabyScreen+ newborn screening v1.114 | GALK1 | Tommy Li Added phenotypes Galactokinase deficiency with cataracts, MIM#230200 for gene: GALK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.62 | GALNT3 |
Zornitza Stark gene: GALNT3 was added gene: GALNT3 was added to BabyScreen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: GALNT3. Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 Review for gene: GALNT3 was set to GREEN Added comment: Established gene-disease association. Onset in infancy/childhood. Treatment: dietary restriction, phosphate binders, acetazolamide Non-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase, vitamin D serum levels, urine calcium, phosphate levels, plasma levels of the C-terminal portion of the phosphate-regulating hormone, fibroblast growth factor 23 Sources: Expert list |
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| BabyScreen+ newborn screening v0.2149 | ALK | Zornitza Stark Marked gene: ALK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2149 | ALK | Zornitza Stark Gene: alk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2149 | ALK | Zornitza Stark Tag cancer tag was added to gene: ALK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2149 | ALK | Zornitza Stark Classified gene: ALK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2149 | ALK | Zornitza Stark Gene: alk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2148 | ALK |
Lilian Downie gene: ALK was added gene: ALK was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALK were set to PMID: 22071890 Phenotypes for gene: ALK were set to {Neuroblastoma, susceptibility to, 3} MIM#613014 Penetrance for gene: ALK were set to Incomplete Review for gene: ALK was set to RED Added comment: Reduced penetrance Not clear guideline on management if detected Sources: Expert list |
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| BabyScreen+ newborn screening v0.1982 | TPK1 |
Lilian Downie gene: TPK1 was added gene: TPK1 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPK1 were set to PMID: 33086386, 32679198, 22152682, PMID: 33231275 Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458 Review for gene: TPK1 was set to GREEN Added comment: Strong gene disease association Variable age of onset but always under 5years Thiamine metabolism dysfunction syndrome-5 (THMD5) is an autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits (Mayr et al., 2011). Biotin and thiamine therapy - newer evidence (2021) suggests early thiamine therapy may prevent any neurologic deficits. Sources: Expert list |
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| BabyScreen+ newborn screening v0.1977 | HSD11B2 |
Zornitza Stark gene: HSD11B2 was added gene: HSD11B2 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: HSD11B2. Mode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD11B2 were set to Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025 Review for gene: HSD11B2 was set to GREEN Added comment: Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone. More than 10 unrelated families reported. Onset is usually in infancy or early childhood. Non-genetic confirmatory testing: aldosterone, renin, potassium levels Sources: Expert list |
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| BabyScreen+ newborn screening v0.1975 | HOGA1 |
Zornitza Stark gene: HOGA1 was added gene: HOGA1 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, metabolic tags were added to gene: HOGA1. Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOGA1 were set to 20797690; 21896830; 22391140 Phenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III MIM#613616 Review for gene: HOGA1 was set to GREEN Added comment: Well-established association with primary hyperoxaluria type III. c.700+5G>T is a recurrent pathogenic variant in European populations (possibly founder) and has high frequency in gnomad (0.2-0.3%). Onset in infancy, progressive multi-system disorder. Treatment: pyridoxine, drinking large volumes, alkalinzation of urine, pyrophosphate-containing solutions, liver-kidney transplant Non-genetic confirmatory testing: urinary oxalate Sources: Expert list |
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| BabyScreen+ newborn screening v0.1952 | WDR72 |
Lilian Downie gene: WDR72 was added gene: WDR72 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR72 were set to PMID: 30028003, PMID: 30779877, PMID:36836560, PMID: 33033857 Phenotypes for gene: WDR72 were set to Distal renal tubular acidosis Review for gene: WDR72 was set to GREEN Added comment: Amelogenesis imperecta - thickened and disoloured dental enamal with RTA Reduced penetrance or variable expression? Some patients only have the tooth phenotype... Presents with polyuria and growth restriction Treat with oral alkali replacement therapy, potassium chloride Sources: Expert list |
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| BabyScreen+ newborn screening v0.1698 | GALK1 | Zornitza Stark Tag metabolic tag was added to gene: GALK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1697 | FGF23 |
Zornitza Stark gene: FGF23 was added gene: FGF23 was added to gNBS. Sources: Expert list Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGF23 were set to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251 Review for gene: FGF23 was set to GREEN Added comment: Mono-allelic GoF variants are associated with hypophosphataemic rickets. Onset in some is in infancy (others adolescence). Treatment: phosphate supplementation and calcitriol Non-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase levels, urine calcium level Bi-allelic LoF variants are associated with tumoral calcinosis. Age of onset and severity are variable, but include early childhood. Treatment: dietary restriction, antacids, phosphate binders, acetazolamide, hemodialysis Non-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase, vitamin D serum levels, urine calcium, phosphate levels, plasma levels of the C-terminal portion of the phosphate-regulating hormone, fibroblast growth factor 23 Sources: Expert list |
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| BabyScreen+ newborn screening v0.1593 | POMT1 | Zornitza Stark Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1553 | PIEZO2 | Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, type 5 to Marden-Walker syndrome (MIM#248700); Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145); Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1550 | PIEZO2 | Zornitza Stark reviewed gene: PIEZO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marden-Walker syndrome (MIM#248700), Arthrogryposis, distal, type 3 (MIM#114300), Arthrogryposis, distal, type 5 (MIM#108145), Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1341 | SLC4A1 |
Seb Lunke changed review comment from: Established gene-disease association. Childhood onset, metabolic condition Treatment: oral alkali replacement therapy, potassium chloride Non-genetic confirmatory test: serum bicarbonate, chloride, potassium, urinary pH and anion gap; to: Established gene-disease association. Childhood onset, metabolic condition Treatment: oral alkali replacement therapy, potassium chloride. Not clear if treatment equally applicable to dominant and recessive forms of disease Non-genetic confirmatory test: serum bicarbonate, chloride, potassium, urinary pH and anion gap |
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| BabyScreen+ newborn screening v0.1275 | HGD | Zornitza Stark Phenotypes for gene: HGD were changed from Alkaptonuria to Alkaptonuria MIM#203500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1206 | HGD | Zornitza Stark reviewed gene: HGD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alkaptonuria MIM#203500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.276 | GALK1 | Zornitza Stark Marked gene: GALK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.276 | GALK1 | Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.276 | GALK1 | Zornitza Stark Tag treatable tag was added to gene: GALK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.276 | GALK1 | Zornitza Stark reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.218 | LARGE1 | Zornitza Stark Phenotypes for gene: LARGE1 were changed from Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | GALK1 | John Christodoulou reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | POMT1 |
Zornitza Stark gene: POMT1 was added gene: POMT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; Walker-Warburg syndrome |
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| BabyScreen+ newborn screening v0.0 | LARGE1 |
Zornitza Stark gene: LARGE1 was added gene: LARGE1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARGE1 were set to Walker-Warburg syndrome |
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| BabyScreen+ newborn screening 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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| BabyScreen+ newborn screening 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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