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| BabyScreen+ newborn screening v1.114 | TAZ | Tommy Li Added phenotypes Barth syndrome, MIM#302060 for gene: TAZ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | SCN4A | Tommy Li Added phenotypes Myasthenic syndrome, congenital, 16, MIM# 614198; Paramyotonia congenita , MIM#168300; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis, type 2, MIM# 170500; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Hypokalemic periodic paralysis, type 2, MIM# 613345 for gene: SCN4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.2063 | SLC1A3 |
Lilian Downie gene: SLC1A3 was added gene: SLC1A3 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC1A3 were set to PMID: 32754645 Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6 MIM#612656 Review for gene: SLC1A3 was set to RED Added comment: ataxia occurs with febrile illnesses Episodic attacks lasted 2 to 3 hours and were often associated with nausea, vomiting, photophobia, phonophobia, vertigo, diplopia, and/or slurred speech Not consistently in children <5 and variable severity Suggested Rx acetazolamide Sources: Expert list |
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| 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 v0.1532 | TAZ | Seb Lunke Marked gene: TAZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1532 | TAZ | Seb Lunke Gene: taz has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1532 | TAZ | Seb Lunke Publications for gene: TAZ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1531 | TAZ | Seb Lunke reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1531 | TAZ | Seb Lunke Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1531 | TAZ | Seb Lunke Classified gene: TAZ as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1531 | TAZ | Seb Lunke Gene: taz has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1530 | TAZ | Seb Lunke reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | TAZ |
Zornitza Stark gene: TAZ was added gene: TAZ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to Barth syndrome, MIM#302060 |
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| BabyScreen+ newborn screening v0.0 | SCN4A |
Zornitza Stark gene: SCN4A was added gene: SCN4A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN4A were set to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Paramyotonia congenita , MIM#168300; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Myasthenic syndrome, congenital, 16, MIM# 614198; Hypokalemic periodic paralysis, type 2, MIM# 613345 |
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