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| BabyScreen+ newborn screening v1.114 | TARDBP | Tommy Li Added phenotypes Amyotrophic lateral sclerosis type 10 for gene: TARDBP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | SOD1 | Tommy Li Added phenotypes Amyotrophic lateral sclerosis for gene: SOD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.114 | MYOT | Tommy Li Added phenotypes Myofibrillar myopathy for gene: MYOT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | LUM | Tommy Li Added phenotypes Amyotrophic lateral sclerosis for gene: LUM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | HINT1 | Tommy Li Added phenotypes Gamstorp-Wohlfart syndrome, MONDO:0007646; Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200 for gene: HINT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | DMPK | Tommy Li Added phenotypes Myotonic dystrophy 1, MIM# 160900 for gene: DMPK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | DCTN1 | Tommy Li Added phenotypes Amyotrophic lateral sclerosis for gene: DCTN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | CLCN1 | Tommy Li Added phenotypes Myotonia congenita, recessive, MIM# 255700; Myotonia congenita, dominant, MIM# 160800 for gene: CLCN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | ALS2 | Tommy Li Added phenotypes Juvenile primary lateral sclerosis (MIM#606353); Infantile onset ascending spastic paralysis (MIM#607225); Juvenile amyotrophic lateral sclerosis 2 (MIM#205100) for gene: ALS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1057 | HINT1 | Zornitza Stark Phenotypes for gene: HINT1 were changed from Axonal neuropathy with neuromyotonia to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1055 | HINT1 | Zornitza Stark reviewed gene: HINT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200, Gamstorp-Wohlfart syndrome, MONDO:0007646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.851 | DMPK | Zornitza Stark Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 to Myotonic dystrophy 1, MIM# 160900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.849 | DMPK | Zornitza Stark reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 1, MIM# 160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.378 | MTM1 | Zornitza Stark Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked to Myopathy, centronuclear, X-linked, MIM# 310400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | MTM1 | David Amor edited their review of gene: MTM1: Changed phenotypes: X-linked myotubular myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.74 | ALS2 | Zornitza Stark Phenotypes for gene: ALS2 were changed from Amyotrophic lateral sclerosis to Infantile onset ascending spastic paralysis (MIM#607225); Juvenile amyotrophic lateral sclerosis 2 (MIM#205100); Juvenile primary lateral sclerosis (MIM#606353) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.72 | ALS2 | Zornitza Stark reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile onset ascending spastic paralysis (MIM#607225), Juvenile amyotrophic lateral sclerosis 2 (MIM#205100), Juvenile primary lateral sclerosis (MIM#606353); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | TARDBP |
Zornitza Stark gene: TARDBP was added gene: TARDBP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TARDBP were set to Amyotrophic lateral sclerosis type 10 |
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| BabyScreen+ newborn screening v0.0 | SOD1 |
Zornitza Stark gene: SOD1 was added gene: SOD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOD1 were set to Amyotrophic lateral sclerosis |
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| BabyScreen+ newborn screening v0.0 | MYOT |
Zornitza Stark gene: MYOT was added gene: MYOT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYOT were set to Myofibrillar myopathy |
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| BabyScreen+ newborn screening v0.0 | LUM |
Zornitza Stark gene: LUM was added gene: LUM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LUM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LUM were set to Amyotrophic lateral sclerosis |
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| BabyScreen+ newborn screening v0.0 | DCTN1 |
Zornitza Stark gene: DCTN1 was added gene: DCTN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DCTN1 were set to Amyotrophic lateral sclerosis |
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| BabyScreen+ newborn screening v0.0 | CLCN1 |
Zornitza Stark gene: CLCN1 was added gene: CLCN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CLCN1 were set to Myotonia congenita, recessive, MIM# 255700; Myotonia congenita, dominant, MIM# 160800 |
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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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| BabyScreen+ newborn screening v0.0 | MTM1 |
Zornitza Stark gene: MTM1 was added gene: MTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked |
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| BabyScreen+ newborn screening 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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| BabyScreen+ newborn screening 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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| BabyScreen+ newborn screening 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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