Activity
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1614 actions
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| BabyScreen+ newborn screening v0.633 | CFL2 | Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.632 | CFL2 | Zornitza Stark reviewed gene: CFL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 7, autosomal recessive, MIM# 610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.632 | SERPINA1 | Seb Lunke Gene: serpina1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.632 | SERPINA1 | Seb Lunke Phenotypes for gene: SERPINA1 were changed from Emphysema due to AAT deficiency, OMIM #107400; Antitrypsin alpha 1 deficiency to Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.631 | SERPINA1 | Seb Lunke Classified gene: SERPINA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.631 | SERPINA1 | Seb Lunke Gene: serpina1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.630 | SERPINA1 | Seb Lunke reviewed gene: SERPINA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.630 | CFC1 | Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.629 | CFC1 | Zornitza Stark Classified gene: CFC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.629 | CFC1 | Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.628 | CEP83 | Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.628 | CEP83 | Zornitza Stark Classified gene: CEP83 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.628 | CEP83 | Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.627 | CEP83 | Zornitza Stark reviewed gene: CEP83: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.627 | CEP290 | Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.627 | CEP290 | Zornitza Stark Phenotypes for gene: CEP290 were changed from Joubert syndrome to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.626 | CEP290 | Zornitza Stark Classified gene: CEP290 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.626 | CEP290 | Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.625 | CEP290 | Zornitza Stark reviewed gene: CEP290: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.625 | SELENON | Seb Lunke Gene: selenon has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.623 | SELENON | Seb Lunke Classified gene: SELENON as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.623 | SELENON | Seb Lunke Gene: selenon has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.622 | VCP | Zornitza Stark Gene: vcp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.622 | VCP | Zornitza Stark Phenotypes for gene: VCP were changed from Inclusion body myopathy with early-onset paget disease and frontotemporal dementia to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320; Charcot-Marie-Tooth disease, type 2Y, MIM# 616687 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.620 | VCP | Zornitza Stark Classified gene: VCP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.620 | VCP | Zornitza Stark Gene: vcp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.619 | VDR | Zornitza Stark Gene: vdr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.619 | VDR | Zornitza Stark Phenotypes for gene: VDR were changed from Vitamin D-dependent rickets to Rickets, vitamin D-resistant, type IIA MIM#277440 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.617 | VHL | Zornitza Stark Gene: vhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.615 | CEP152 | Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.615 | CEP152 | Zornitza Stark Phenotypes for gene: CEP152 were changed from Seckel syndrome to Microcephaly 9, primary, autosomal recessive, MIM# 614852; Seckel syndrome 5, MIM# 613823 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.614 | CEP152 | Zornitza Stark Classified gene: CEP152 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.614 | CEP152 | Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.613 | CEP152 | Zornitza Stark reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, Seckel syndrome 5, MIM# 613823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.613 | CDT1 | Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.613 | CDT1 | Zornitza Stark Classified gene: CDT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.613 | CDT1 | Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.612 | CDSN | Zornitza Stark Gene: cdsn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.612 | CDSN | Zornitza Stark Phenotypes for gene: CDSN were changed from Hypotrichosis to Peeling skin syndrome 1, MIM#270300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.610 | CDSN | Zornitza Stark Classified gene: CDSN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.610 | CDSN | Zornitza Stark Gene: cdsn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.609 | CDKL5 | Zornitza Stark Gene: cdkl5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.608 | CDKL5 | Zornitza Stark Classified gene: CDKL5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.608 | CDKL5 | Zornitza Stark Gene: cdkl5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.607 | CDH23 | Zornitza Stark edited their review of gene: CDH23: Changed phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386), Usher syndrome, type 1D/F digenic (MIM #601067) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.607 | CDH23 | Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.607 | CDH23 | Zornitza Stark Phenotypes for gene: CDH23 were changed from Deafness, autosomal recessive; Usher syndrome, type 1D to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.606 | CDH23 | Zornitza Stark reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.606 | CDC14A | Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.606 | CDC14A | Zornitza Stark reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.606 | GATA4 |
Alison Yeung changed review comment from: Well-established gene-disease association for congenital heart defects and neonatal diabetes Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects Severity: variable defects. No syndromic features, no association with arrhythmias Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes; to: Well-established gene-disease association for congenital heart defects and neonatal diabetes Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects Severity: variable defects. No syndromic features, no association with arrhythmias Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes |
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| BabyScreen+ newborn screening v0.606 | GATA4 |
Alison Yeung changed review comment from: Well-established gene-disease association Onset: infancy (congenital heart defects) but variable expressivity and incomplete penetrance common Severity: variable defects. No syndromic features, no association with arrhythmias Treatment: Echocardiogram and surgical repair; to: Well-established gene-disease association for congenital heart defects and neonatal diabetes Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects Severity: variable defects. No syndromic features, no association with arrhythmias Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes |
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| BabyScreen+ newborn screening v0.606 | DDR2 | Zornitza Stark Gene: ddr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.606 | DDR2 | Zornitza Stark Phenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.604 | DDR2 |
Zornitza Stark edited their review of gene: DDR2: Added comment: AR LoF variants cause a skeletal dysplasia of perinatal onset, whereas AD GoF variants cause a syndromic disorder. No specific treatment for either.; Changed phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, Warburg-Cinotti syndrome, MIM# 618175 |
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| BabyScreen+ newborn screening v0.604 | VCP | Lilian Downie reviewed gene: VCP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16247064, PMID: 21145000; Phenotypes: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.604 | VDR | Lilian Downie reviewed gene: VDR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32596195, PMID: 31926093, PMID: 32049653; Phenotypes: Rickets, vitamin D-resistant, type IIA MIM#277440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.604 | CD79B | Zornitza Stark Gene: cd79b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.603 | CD79A | Zornitza Stark Gene: cd79a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.603 | CD40LG | Zornitza Stark Gene: cd40lg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.602 | CD3E | Zornitza Stark Gene: cd3e has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.602 | CD3D | Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.602 | VIPAS39 | Zornitza Stark Gene: vipas39 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.602 | VIPAS39 | Zornitza Stark Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction and cholestasis to Arthrogryposis, renal dysfunction, and cholestasis MIM#613404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.600 | VIPAS39 | Zornitza Stark Classified gene: VIPAS39 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.600 | VIPAS39 | Zornitza Stark Gene: vipas39 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.599 | VIPAS39 | Zornitza Stark reviewed gene: VIPAS39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.599 | VLDLR | Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.599 | VLDLR | Zornitza Stark Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.598 | VLDLR | Zornitza Stark Classified gene: VLDLR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.598 | VLDLR | Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.597 | VPS13A | Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.597 | VPS13A | Zornitza Stark Phenotypes for gene: VPS13A were changed from Choreoacanthocytosis to Choreoacanthocytosis MIM#200150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.596 | VPS13A | Zornitza Stark Classified gene: VPS13A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.596 | VPS13A | Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.595 | VPS13B | Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.594 | VPS13B | Zornitza Stark Classified gene: VPS13B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.594 | VPS13B | Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.592 | GCK | Zornitza Stark Gene: gck has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.591 | G6PC | Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.590 | FUCA1 | Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.590 | FUCA1 | Zornitza Stark Phenotypes for gene: FUCA1 were changed from Fucosidosis to Fucosidosis, MIM# 230000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.588 | FUCA1 | Zornitza Stark reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fucosidosis, MIM# 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.588 | VIPAS39 | Lilian Downie reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35761207; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.588 | VLDLR | Lilian Downie reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.588 | VPS13A | Lilian Downie reviewed gene: VPS13A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoacanthocytosis MIM#200150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.588 | CYP21A2 | Zornitza Stark Classified gene: CYP21A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.588 | CYP21A2 | Zornitza Stark Gene: cyp21a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.587 | CYP11A1 | Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.587 | CYP11A1 |
Zornitza Stark changed review comment from: Well established gene-disease association. Congenital onset. For review: should we include mono-allelic variants?; to: Well established gene-disease association. Congenital onset. Mono-allelic variants discussed: a single family reported only. Does not meet criteria for inclusion. MOI set to bi-allelic. |
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| BabyScreen+ newborn screening v0.587 | COQ7 | Zornitza Stark Classified gene: COQ7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.587 | COQ7 | Zornitza Stark Gene: coq7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.586 | COQ7 |
Zornitza Stark changed review comment from: Four families reported. Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.; to: Four families reported only. Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations. However this advice applies to the whole group of related conditions, and data on this particular condition in terms of natural history and response to treatment is currently limited. |
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| BabyScreen+ newborn screening v0.586 | CBS | Zornitza Stark Classified gene: CBS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.586 | CBS | Zornitza Stark Gene: cbs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.585 | CBS |
Zornitza Stark changed review comment from: Well established gene-disease association. Multi-system disorder, onset in infancy. In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature. Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219. Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids Paediatric actionable gene by ClinGen. Note excluded from reproductive carrier screening tests due to poor mappability, for review.; to: Well established gene-disease association. Multi-system disorder, onset in infancy. In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature. Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219. Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids Paediatric actionable gene by ClinGen. Note excluded from reproductive carrier screening tests due to poor mappability: downgraded to Amber for now. |
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| BabyScreen+ newborn screening v0.585 | BCHE | Zornitza Stark Gene: bche has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.585 | BCHE |
Zornitza Stark changed review comment from: Well established gene-disease association. Individuals are asymptomatic unless exposed to triggering agents. Consider as a separate pharmacogenomic offering? For review.; to: Well established gene-disease association. Individuals are asymptomatic unless exposed to triggering agents. Consider as a separate pharmacogenomic offering? Group review: preventative intervention available by placing alerts in medical records. |
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| BabyScreen+ newborn screening v0.585 | ATP7B | Zornitza Stark commented on gene: ATP7B: Group discussion: acute liver failure can be fatal, and the disorder is treatable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.585 | CDK5RAP2 | Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.585 | CDK5RAP2 | Zornitza Stark Classified gene: CDK5RAP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.585 | CDK5RAP2 | Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.584 | CDK5RAP2 | Zornitza Stark reviewed gene: CDK5RAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.584 | FLAD1 | Zornitza Stark Gene: flad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.583 | FUCA1 | John Christodoulou reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33266441; Phenotypes: neurodegneration, coarse facial features, grow retardation, dysostosis multiplex, angiokeratomata, recurrent URTIs; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.583 | FLAD1 | John Christodoulou reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30680745; Phenotypes: lactic acidosis, respiratory insufficiency, cardiomyopathy, skeletal myopathy, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.583 | CCDC40 | Zornitza Stark Gene: ccdc40 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.583 | CCDC40 | Zornitza Stark Phenotypes for gene: CCDC40 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 15, MIM#613808 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.582 | CCDC40 | Zornitza Stark Classified gene: CCDC40 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.582 | CCDC40 | Zornitza Stark Gene: ccdc40 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.581 | CCDC40 | Zornitza Stark reviewed gene: CCDC40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 15, MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.581 | CCDC39 | Zornitza Stark Gene: ccdc39 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.581 | CCDC39 | Zornitza Stark Phenotypes for gene: CCDC39 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 14, MIM# 613807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.580 | CCDC39 | Zornitza Stark Classified gene: CCDC39 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.580 | CCDC39 | Zornitza Stark Gene: ccdc39 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.579 | CCDC39 | Zornitza Stark reviewed gene: CCDC39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 14, MIM# 613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.579 | CC2D2A | Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.578 | CC2D2A | Zornitza Stark Classified gene: CC2D2A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.578 | CC2D2A | Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.577 | CAVIN1 | Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.575 | CAV3 | Zornitza Stark Gene: cav3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.574 | CAV3 | Zornitza Stark Classified gene: CAV3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.574 | CAV3 | Zornitza Stark Gene: cav3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.573 | CBL | Zornitza Stark Gene: cbl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.572 | CBL | Zornitza Stark Classified gene: CBL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.572 | CBL | Zornitza Stark Gene: cbl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.571 | CASQ2 | Zornitza Stark Gene: casq2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.569 | CASQ2 | Zornitza Stark Classified gene: CASQ2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.569 | CASQ2 | Zornitza Stark Gene: casq2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.568 | CASK | Zornitza Stark Gene: cask has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.568 | CASK | Zornitza Stark Phenotypes for gene: CASK were changed from Mental retardation and microcephaly with pontine and cerebellar hypoplasia to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.566 | CASK | Zornitza Stark Classified gene: CASK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.566 | CASK | Zornitza Stark Gene: cask has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.565 | CASK | Zornitza Stark reviewed gene: CASK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FG syndrome 4 MIM#300422, Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749, Mental retardation, with or without nystagmus MIM#300422; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.565 | CARD11 | Zornitza Stark Gene: card11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.565 | CARD11 | Zornitza Stark Phenotypes for gene: CARD11 were changed from Immunodeficiency 11A, MIM# 615206 to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.564 | CARD11 | Zornitza Stark reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561803, 12818158, 23374270, 28628108; Phenotypes: Immunodeficiency 11A, autosomal recessive, MIM# 615206, Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.564 | CHD7 | Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.563 | CHD7 | Zornitza Stark Classified gene: CHD7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.563 | CHD7 | Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.562 | CA2 | Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.562 | CA2 | Zornitza Stark Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.561 | CA2 | Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.561 | CAPN3 | Zornitza Stark Gene: capn3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.561 | CAPN3 | Zornitza Stark Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, type 2A to Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.560 | CAPN3 | Zornitza Stark Classified gene: CAPN3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.560 | CAPN3 | Zornitza Stark Gene: capn3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.559 | CAPN3 | Zornitza Stark reviewed gene: CAPN3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.559 | CACNA1F | Zornitza Stark Gene: cacna1f has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.558 | CACNA1F | Zornitza Stark Classified gene: CACNA1F as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.558 | CACNA1F | Zornitza Stark Gene: cacna1f has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.557 | CACNA1A | Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.556 | CACNA1A | Zornitza Stark Classified gene: CACNA1A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.556 | CACNA1A | Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.555 | CABP2 | Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.555 | CABP2 | Zornitza Stark reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.553 | GATA3 | Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.553 | GATA3 | Zornitza Stark reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.553 | GATA2 | Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.552 | GAN | Zornitza Stark Gene: gan has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.551 | GAN | Zornitza Stark Classified gene: GAN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.551 | GAN | Zornitza Stark Gene: gan has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.550 | GAMT | Zornitza Stark Gene: gamt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.550 | GALNS | Zornitza Stark Gene: galns has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.550 | GALNS | Zornitza Stark Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA to Mucopolysaccharidosis IVA, MIM#253000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.549 | GALC | Zornitza Stark Gene: galc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.548 | SDHD | Seb Lunke Gene: sdhd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.546 | SDHD | Seb Lunke Classified gene: SDHD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.546 | SDHD | Seb Lunke Gene: sdhd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.545 | C9 | Zornitza Stark Gene: c9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.545 | C8B | Zornitza Stark Gene: c8b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.545 | C8A | Zornitza Stark Gene: c8a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.545 | C8A | Zornitza Stark Classified gene: C8A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.545 | C8A | Zornitza Stark Gene: c8a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.544 | C7 | Zornitza Stark Gene: c7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.544 | SCO2 | Seb Lunke Gene: sco2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.543 | SCO2 | Seb Lunke Classified gene: SCO2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.543 | SCO2 | Seb Lunke Gene: sco2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.542 | SCNN1B | Seb Lunke Gene: scnn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.542 | SCNN1A | Seb Lunke Gene: scnn1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | SCN8A | Seb Lunke Gene: scn8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | GATA3 | Alison Yeung reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | GALNS | Alison Yeung reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis IVA, MIM#253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | C6 | Zornitza Stark Gene: c6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | FH | Zornitza Stark Gene: fh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | FBP1 | Zornitza Stark Gene: fbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | FAH | Zornitza Stark Gene: fah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | FAH | Zornitza Stark reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | ETHE1 | Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | FBP1 | John Christodoulou reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fasting hypoglycemia, metabolic acidosis, ketosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | ETHE1 | John Christodoulou reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: petechiae, acrocyanosis, chronic diarrhoea, ID, regression; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | DPAGT1 | Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.540 | DOLK | Zornitza Stark Gene: dolk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.540 | DOLK | Zornitza Stark Classified gene: DOLK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.540 | DOLK | Zornitza Stark Gene: dolk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.539 | DLD | Zornitza Stark Gene: dld has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.539 | DLD | Zornitza Stark Classified gene: DLD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.539 | DLD | Zornitza Stark Gene: dld has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.538 | DHCR7 | Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.537 | DHCR7 | Zornitza Stark Classified gene: DHCR7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.537 | DHCR7 | Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.536 | DGUOK | Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.535 | DGUOK | Zornitza Stark Classified gene: DGUOK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.535 | DGUOK | Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.534 | DDC | Zornitza Stark Gene: ddc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.534 | DGAT1 | Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.534 | DGAT1 | Zornitza Stark reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.534 | D2HGDH | Zornitza Stark Gene: d2hgdh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.533 | D2HGDH | Zornitza Stark Classified gene: D2HGDH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.533 | D2HGDH | Zornitza Stark Gene: d2hgdh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.532 | CYP27B1 | Zornitza Stark Gene: cyp27b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.531 | CYP27A1 | Zornitza Stark Gene: cyp27a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.531 | CYP27A1 | Zornitza Stark Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, MIM# 213700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.530 | CYP27A1 | Zornitza Stark Classified gene: CYP27A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.530 | CYP27A1 | Zornitza Stark Gene: cyp27a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.529 | CYP27A1 | Zornitza Stark reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, MIM# 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.529 | CYP17A1 | Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.529 | CYP11B2 | Zornitza Stark Gene: cyp11b2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.529 | CYP11B1 | Zornitza Stark Gene: cyp11b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.528 | CYP11B1 | Zornitza Stark reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.528 | CUBN | Zornitza Stark Gene: cubn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.528 | CTSD | Zornitza Stark Gene: ctsd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.528 | CTSD | Zornitza Stark Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.527 | CTSD | Zornitza Stark Classified gene: CTSD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.527 | CTSD | Zornitza Stark Gene: ctsd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.526 | CTSD | Zornitza Stark reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.526 | CTNS | Zornitza Stark Gene: ctns has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.526 | CTNS | Zornitza Stark Phenotypes for gene: CTNS were changed from Cystinosis to Cystinosis, nephropathic MIM#219800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.525 | CTNS | Zornitza Stark reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinosis, nephropathic MIM#219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.525 | CPS1 | Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.524 | COQ9 | Zornitza Stark Gene: coq9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.524 | COQ9 | Zornitza Stark Classified gene: COQ9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.524 | COQ9 | Zornitza Stark Gene: coq9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.523 | DLD | John Christodoulou reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuroregresson, lactic acidosis, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.523 | DDC | John Christodoulou reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hypotonia, oculogyric crises, temperature instability, ID, autonomic dysfunction, sleep disturbance, choreoathetosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.523 | CYP27A1 | John Christodoulou reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: diarrhoea, cataracts, xanthomas, progressive ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.523 | CYP17A1 | John Christodoulou reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital adrenal hyperplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.523 | CYP11B1 | John Christodoulou reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27928728; Phenotypes: congenital adrenal hyperplasia, aldosteronism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.523 | CYP11A1 | John Christodoulou reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25096886; Phenotypes: congenital adrenal hyperplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.523 | CTSD | John Christodoulou reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuronal ceroid lipofuscinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.523 | VPS33B | Zornitza Stark Gene: vps33b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.523 | VPS33B | Zornitza Stark Phenotypes for gene: VPS33B were changed from Arthrogryposis renal dysfunction cholestasis syndrome to Arthrogryposis, renal dysfunction, and cholestasis MIM#208085 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.521 | VPS33B | Zornitza Stark Classified gene: VPS33B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.521 | VPS33B | Zornitza Stark Gene: vps33b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.520 | VPS45 | Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.519 | WAS | Zornitza Stark Gene: was has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.518 | WDR62 | Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.518 | WDR62 | Zornitza Stark Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.516 | WDR62 | Zornitza Stark Classified gene: WDR62 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.516 | WDR62 | Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.515 | WFS1 | Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.513 | WFS1 | Zornitza Stark Classified gene: WFS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.513 | WFS1 | Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.512 | WHRN | Zornitza Stark Gene: whrn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.512 | WRAP53 | Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.512 | WRAP53 | Zornitza Stark Classified gene: WRAP53 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.512 | WRAP53 | Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.511 | WRN | Zornitza Stark Gene: wrn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.509 | WRN | Zornitza Stark Classified gene: WRN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.509 | WRN | Zornitza Stark Gene: wrn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.508 | XIAP | Zornitza Stark Gene: xiap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.507 | SCN3A | Seb Lunke Gene: scn3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.505 | SCN2A | Seb Lunke Gene: scn2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.505 | SCN1A | Seb Lunke Gene: scn1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.503 | VPS33B | Lilian Downie reviewed gene: VPS33B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15052268, 15052268, 18853461; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.503 | WDR62 | Lilian Downie reviewed gene: WDR62: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 35188728; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.503 | WRAP53 | Lilian Downie reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: PMID:21205863, 19250907, 20301779; Phenotypes: dyskeratosis congenita MIM#613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.503 | GAA | Zornitza Stark Gene: gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.502 | GAA |
Alison Yeung changed review comment from: Well establishes gene-disease association Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy Severity: Infantile form fatal in first year of life if untreated Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills; to: Well establishes gene-disease association Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy Severity: Infantile form fatal in first year of life if untreated Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills Non-molecular confirmatory test: enzyme activity analysis |
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| BabyScreen+ newborn screening v0.502 | G6PD | Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.502 | SCN11A | Seb Lunke Gene: scn11a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.501 | SCN11A | Seb Lunke Classified gene: SCN11A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.501 | SCN11A | Seb Lunke Gene: scn11a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.500 | SBDS | Seb Lunke Gene: sbds has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.498 | BLNK | Zornitza Stark Gene: blnk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.497 | C5 | Zornitza Stark Gene: c5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.497 | SAMHD1 | Seb Lunke Gene: samhd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.495 | BSND | Zornitza Stark Gene: bsnd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.494 | SALL1 | Seb Lunke Gene: sall1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.494 | BSCL2 | Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.493 | SALL1 | Seb Lunke Classified gene: SALL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.493 | SALL1 | Seb Lunke Gene: sall1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.492 | SACS | Seb Lunke Gene: sacs has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.491 | SACS | Seb Lunke Classified gene: SACS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.491 | SACS | Seb Lunke Gene: sacs has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.490 | BRIP1 | Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.490 | G6PC3 | Alison Yeung reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.490 | BMPR1A | Zornitza Stark Gene: bmpr1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.490 | BMPR1A | Zornitza Stark Classified gene: BMPR1A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.490 | BMPR1A | Zornitza Stark Gene: bmpr1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.489 | BMPR1A | Zornitza Stark reviewed gene: BMPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.489 | BLM | Zornitza Stark Gene: blm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.488 | BLM | Zornitza Stark Classified gene: BLM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.488 | BLM | Zornitza Stark Gene: blm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.487 | ADGRV1 | Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.486 | ACADVL | Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.485 | ACAD9 | Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.485 | ACTG1 | Zornitza Stark Gene: actg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.484 | ACTG1 | Zornitza Stark Classified gene: ACTG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.484 | ACTG1 | Zornitza Stark Gene: actg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.483 | ACAD8 | Zornitza Stark Gene: acad8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.482 | ACAD8 | Zornitza Stark Classified gene: ACAD8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.482 | ACAD8 | Zornitza Stark Gene: acad8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.481 | OSMR | Zornitza Stark Gene: osmr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.481 | OSMR | Zornitza Stark Phenotypes for gene: OSMR were changed from Amyloidosis, primary cutaneous to Amyloidosis, primary localized cutaneous, 1 - MIM#105250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.480 | OSMR | Zornitza Stark Classified gene: OSMR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.480 | OSMR | Zornitza Stark Gene: osmr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.479 | OSMR | Zornitza Stark reviewed gene: OSMR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, primary localized cutaneous, 1 - MIM#105250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.479 | ORC1 | Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.478 | ORC1 | Zornitza Stark Classified gene: ORC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.478 | ORC1 | Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.477 | OPA1 | Zornitza Stark Gene: opa1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.475 | OPA1 | Zornitza Stark Classified gene: OPA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.475 | OPA1 | Zornitza Stark Gene: opa1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.474 | OFD1 | Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.473 | OFD1 | Zornitza Stark Classified gene: OFD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.473 | OFD1 | Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.472 | OCRL | Zornitza Stark Gene: ocrl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.471 | OCRL | Zornitza Stark Classified gene: OCRL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.471 | OCRL | Zornitza Stark Gene: ocrl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.470 | OCA2 | Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.468 | OCA2 | Zornitza Stark Classified gene: OCA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.468 | OCA2 | Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.467 | OBSL1 | Zornitza Stark Gene: obsl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.466 | OBSL1 | Zornitza Stark Classified gene: OBSL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.466 | OBSL1 | Zornitza Stark Gene: obsl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.465 | NTRK1 | Zornitza Stark Gene: ntrk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.465 | NTRK1 | Zornitza Stark Classified gene: NTRK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.465 | NTRK1 | Zornitza Stark Gene: ntrk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.464 | NTRK1 | Zornitza Stark reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis - MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.464 | NSD1 | Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.463 | NSD1 | Zornitza Stark Classified gene: NSD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.463 | NSD1 | Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.462 | NR5A1 | Zornitza Stark Gene: nr5a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.461 | NR3C2 | Zornitza Stark Gene: nr3c2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.461 | NR0B1 | Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.461 | NR0B1 | Zornitza Stark Phenotypes for gene: NR0B1 were changed from Congenital adrenal hypoplasia to Adrenal hypoplasia, congenital (MIM# 300200) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.460 | NR0B1 | Zornitza Stark reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hypoplasia, congenital (MIM# 300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.460 | NPHS1 | Zornitza Stark Gene: nphs1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.459 | NPHS1 | Zornitza Stark Classified gene: NPHS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.459 | NPHS1 | Zornitza Stark Gene: nphs1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.458 | NPHP4 | Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.458 | NPHP4 | Zornitza Stark Phenotypes for gene: NPHP4 were changed from Nephronophthisis to Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.457 | NPHP4 | Zornitza Stark Classified gene: NPHP4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.457 | NPHP4 | Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.456 | NPHP4 | Zornitza Stark reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.456 | NPHP3 | Zornitza Stark Gene: nphp3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.456 | NPHP3 | Zornitza Stark Phenotypes for gene: NPHP3 were changed from Nephronophthisis to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.455 | NPHP3 | Zornitza Stark reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.455 | NPHP3 | Zornitza Stark Classified gene: NPHP3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.455 | NPHP3 | Zornitza Stark Gene: nphp3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.454 | OSMR | David Amor reviewed gene: OSMR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, primary localized cutaneous, 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.454 | NPHP1 | Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.454 | NPHP1 | Zornitza Stark Phenotypes for gene: NPHP1 were changed from Nephronophthisis to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.453 | NPHP1 | Zornitza Stark Classified gene: NPHP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.453 | NPHP1 | Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.452 | NPHP1 | Zornitza Stark reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.452 | NPC2 | Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.451 | NPC1 | Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.450 | NOTCH3 | Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.449 | NOTCH3 | Zornitza Stark Classified gene: NOTCH3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.449 | NOTCH3 | Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.448 | NOTCH2 | Zornitza Stark Gene: notch2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.447 | NOTCH2 | Zornitza Stark Classified gene: NOTCH2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.447 | NOTCH2 | Zornitza Stark Gene: notch2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.446 | NOG | Zornitza Stark Gene: nog has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.446 | NOG | Zornitza Stark Phenotypes for gene: NOG were changed from Symphalangism, proximal, 1A to Brachydactyly, type B2 - MIM#611377; Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.445 | NOG | Zornitza Stark Classified gene: NOG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.445 | NOG | Zornitza Stark Gene: nog has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.444 | NOG | Zornitza Stark reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type B2 - MIM#611377, Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.444 | NNT | Zornitza Stark Gene: nnt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.443 | NKX2-1 | Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.443 | NKX2-1 | Zornitza Stark Phenotypes for gene: NKX2-1 were changed from Choreoathetosis, hypothyroidism, and neonatal respiratory distress to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.442 | NKX2-1 | Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.442 | NIPBL | Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.441 | NIPBL | Zornitza Stark Classified gene: NIPBL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.441 | NIPBL | Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.440 | NIPAL4 | Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.440 | NIPAL4 | Zornitza Stark Phenotypes for gene: NIPAL4 were changed from Ichthyosis, autosomal recessive to Ichthyosis, congenital, autosomal recessive 6, MIM# 612281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.438 | NIPAL4 | Zornitza Stark reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 6, MIM# 612281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.438 | NHLRC1 | Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.438 | NHLRC1 | Zornitza Stark Phenotypes for gene: NHLRC1 were changed from Myoclonic epilepsy of Lafora to Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.437 | NHLRC1 | Zornitza Stark Classified gene: NHLRC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.437 | NHLRC1 | Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.436 | NHLRC1 | Zornitza Stark reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.436 | NHEJ1 | Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.436 | NHEJ1 | Zornitza Stark reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.436 | NGLY1 | Zornitza Stark Gene: ngly1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.435 | NGLY1 | Zornitza Stark Classified gene: NGLY1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.435 | NGLY1 | Zornitza Stark Gene: ngly1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.434 | NF2 | Zornitza Stark Gene: nf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.434 | NF2 | Zornitza Stark Phenotypes for gene: NF2 were changed from Neurofibromatosis 2 to Neurofibromatosis, type 2 (MIM# 101000) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.433 | NF2 | Zornitza Stark Classified gene: NF2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.433 | NF2 | Zornitza Stark Gene: nf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.432 | NF2 | Zornitza Stark reviewed gene: NF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2 (MIM# 101000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.432 | NF1 | Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.432 | NF1 | Zornitza Stark Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 to Neurofibromatosis, type 1, MIM# 162200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.430 | NF1 | Zornitza Stark reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 1, MIM# 162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.430 | NEUROG3 | Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.430 | NEU1 | Zornitza Stark Gene: neu1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.430 | NEU1 | Zornitza Stark Phenotypes for gene: NEU1 were changed from Sialidosis to Sialidosis, type I and type II, MIM# 256550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.429 | NEU1 | Zornitza Stark Classified gene: NEU1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.429 | NEU1 | Zornitza Stark Gene: neu1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.428 | NEU1 | Zornitza Stark reviewed gene: NEU1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialidosis, type I and type II, MIM# 256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.428 | NEK8 | Zornitza Stark Gene: nek8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.428 | NEK8 | Zornitza Stark Classified gene: NEK8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.428 | NEK8 | Zornitza Stark Gene: nek8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.427 | NEK8 | Zornitza Stark reviewed gene: NEK8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.427 | NEK1 | Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.427 | NEK1 | Zornitza Stark Classified gene: NEK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.427 | NEK1 | Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.426 | NEK1 | Zornitza Stark reviewed gene: NEK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.426 | NEFL | Zornitza Stark Gene: nefl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.424 | NEFL | Zornitza Stark Classified gene: NEFL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.424 | NEFL | Zornitza Stark Gene: nefl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.423 | NEB | Zornitza Stark Gene: neb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.423 | NEB | Zornitza Stark Phenotypes for gene: NEB were changed from Nemaline myopathy to Nemaline myopathy 2, autosomal recessive 256030; Arthrogryposis multiplex congenita 6, MIM# 619334 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.422 | NEB | Zornitza Stark Classified gene: NEB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.422 | NEB | Zornitza Stark Gene: neb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.421 | NEB | Zornitza Stark reviewed gene: NEB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 2, autosomal recessive 256030, Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.421 | NDP | Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.420 | NDP | Zornitza Stark Classified gene: NDP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.420 | NDP | Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.419 | NCF2 | Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.418 | NCF2 | Zornitza Stark reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.418 | NCF1 | Zornitza Stark Gene: ncf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.417 | NCF1 | Zornitza Stark reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease 1, autosomal recessive, MIM# 233700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.417 | NBN | Zornitza Stark Gene: nbn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.417 | NBN | Zornitza Stark Classified gene: NBN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.417 | NBN | Zornitza Stark Gene: nbn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.416 | NAGS | Zornitza Stark Gene: nags has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.416 | NAGLU | Zornitza Stark Gene: naglu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.416 | NAGLU | Zornitza Stark Phenotypes for gene: NAGLU were changed from Sanfilippo syndrome type B to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.415 | NAGLU | Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.415 | NAGA | Zornitza Stark Gene: naga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.414 | NAGA | Zornitza Stark Classified gene: NAGA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.414 | NAGA | Zornitza Stark Gene: naga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.413 | MYO9A | Zornitza Stark Gene: myo9a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.413 | MYO9A | Zornitza Stark Classified gene: MYO9A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.413 | MYO9A | Zornitza Stark Gene: myo9a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.412 | MYO7A | Zornitza Stark Gene: myo7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.412 | MYO7A | Zornitza Stark Phenotypes for gene: MYO7A were changed from Usher syndrome to Deafness, autosomal recessive 2, 600060; Usher syndrome, type 1B, MIM# 276900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.411 | MYO7A | Zornitza Stark reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 2, 600060, Usher syndrome, type 1B, MIM# 276900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.411 | MYO6 | Zornitza Stark Gene: myo6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.411 | MYO6 | Zornitza Stark Phenotypes for gene: MYO6 were changed from Deafness to Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.409 | MYO6 | Zornitza Stark reviewed gene: MYO6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 22, MIM# 606346, Deafness, autosomal recessive 37, MIM# 607821; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.409 | MYO3A | Zornitza Stark Gene: myo3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.409 | MYO3A | Zornitza Stark Phenotypes for gene: MYO3A were changed from Sensorineural hearing loss to Deafness, autosomal recessive 30, MIM:607101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.408 | MYO3A | Zornitza Stark Classified gene: MYO3A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.408 | MYO3A | Zornitza Stark Gene: myo3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.407 | MYO3A | Zornitza Stark reviewed gene: MYO3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 30 OMIM:607101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.407 | MYO15A | Zornitza Stark Gene: myo15a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.407 | MYO15A | Zornitza Stark Phenotypes for gene: MYO15A were changed from Sensorineural hearing loss to Deafness, autosomal recessive 3, MIM# 600316 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.406 | MYO15A | Zornitza Stark reviewed gene: MYO15A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 3, MIM# 600316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.406 | MYH9 | Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.406 | MYH9 | Zornitza Stark Phenotypes for gene: MYH9 were changed from Macrothrombocytopenia and progressive sensorineural deafness to Deafness, autosomal dominant 17, MIM# 603622; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.405 | MYH9 | Zornitza Stark Classified gene: MYH9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.405 | MYH9 | Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.404 | MYH9 | Zornitza Stark reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 17, MIM# 603622, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.404 | MYH7 | Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.403 | MYH7 | Zornitza Stark Classified gene: MYH7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.403 | MYH7 | Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.402 | MYH7 | Zornitza Stark reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426 MONDO:0013262, Cardiomyopathy, hypertrophic, 1, MIM# 192600, Laing distal myopathy, MIM# 160500, Myopathy, myosin storage, autosomal dominant, MIM# 608358, Myopathy, myosin storage, autosomal recessive, MIM# 255160; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.402 | MYH3 | Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.402 | MYH3 | Zornitza Stark Phenotypes for gene: MYH3 were changed from Arthrogryposis, distal to Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.400 | MYH3 | Zornitza Stark Classified gene: MYH3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.400 | MYH3 | Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.399 | MYH3 | Zornitza Stark reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436, Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.399 | MYH2 | Zornitza Stark Gene: myh2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.398 | MYH2 | Zornitza Stark Classified gene: MYH2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.398 | MYH2 | Zornitza Stark Gene: myh2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.397 | MYH14 | Zornitza Stark Gene: myh14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.395 | MYH14 | Zornitza Stark Classified gene: MYH14 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.395 | MYH14 | Zornitza Stark Gene: myh14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.394 | MYCN | Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.393 | MYCN | Zornitza Stark Classified gene: MYCN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.393 | MYCN | Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.392 | MYBPC1 | Zornitza Stark Gene: mybpc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.392 | MYBPC1 | Zornitza Stark Classified gene: MYBPC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.392 | MYBPC1 | Zornitza Stark Gene: mybpc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.391 | MYBPC1 | Zornitza Stark reviewed gene: MYBPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.391 | MVK | Zornitza Stark Gene: mvk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.389 | XPA | Zornitza Stark Gene: xpa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.388 | XPC | Zornitza Stark Gene: xpc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.386 | MUTYH | Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.386 | MUTYH | Zornitza Stark Phenotypes for gene: MUTYH were changed from MUTYH-associated polyposis to Adenomas, multiple colorectal, MIM# 608456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.385 | MUTYH | Zornitza Stark Classified gene: MUTYH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.385 | MUTYH | Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.384 | MYSM1 | Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.384 | MUSK | Zornitza Stark Gene: musk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.384 | MTTP | Zornitza Stark Gene: mttp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.383 | MTRR | Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.382 | MSX2 | Zornitza Stark Gene: msx2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.382 | MSX2 | Zornitza Stark Phenotypes for gene: MSX2 were changed from Parietal foramina 1 to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.381 | MSX2 | Zornitza Stark Classified gene: MSX2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.381 | MSX2 | Zornitza Stark Gene: msx2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.380 | MSX2 | Zornitza Stark reviewed gene: MSX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.380 | MRAP | Zornitza Stark Gene: mrap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.380 | MTR | Zornitza Stark Gene: mtr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.378 | MTM1 | Zornitza Stark Gene: mtm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.377 | MTM1 | Zornitza Stark Classified gene: MTM1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.377 | MTM1 | Zornitza Stark Gene: mtm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.376 | MPZ | Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.374 | MPZ | Zornitza Stark Classified gene: MPZ as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.374 | MPZ | Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.373 | MPV17 | Zornitza Stark Gene: mpv17 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.372 | MPV17 | Zornitza Stark Classified gene: MPV17 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.372 | MPV17 | Zornitza Stark Gene: mpv17 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.371 | MPL | Zornitza Stark Gene: mpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.368 | MPI | Zornitza Stark Gene: mpi has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.366 | MPDU1 | Zornitza Stark Gene: mpdu1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.366 | MPDU1 | Zornitza Stark Classified gene: MPDU1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.366 | MPDU1 | Zornitza Stark Gene: mpdu1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.365 | MOCS2 | Zornitza Stark Gene: mocs2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.364 | MOCS2 | Zornitza Stark Classified gene: MOCS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.364 | MOCS2 | Zornitza Stark Gene: mocs2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.363 | MOCS1 | Zornitza Stark Gene: mocs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.362 | MLYCD | Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.361 | ZAP70 | Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.359 | ZEB2 | Zornitza Stark Gene: zeb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.357 | ZEB2 | Zornitza Stark Classified gene: ZEB2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.357 | ZEB2 | Zornitza Stark Gene: zeb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.356 | ZIC2 | Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.354 | ZIC2 | Zornitza Stark Classified gene: ZIC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.354 | ZIC2 | Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.353 | ZIC3 | Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.351 | ZIC3 | Zornitza Stark Classified gene: ZIC3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.351 | ZIC3 | Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.350 | ZMPSTE24 | Zornitza Stark Gene: zmpste24 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.348 | ZMPSTE24 | Zornitza Stark Classified gene: ZMPSTE24 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.348 | ZMPSTE24 | Zornitza Stark Gene: zmpste24 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.347 | ZNF469 | Zornitza Stark Gene: znf469 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.345 | ZNF469 | Zornitza Stark Classified gene: ZNF469 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.345 | ZNF469 | Zornitza Stark Gene: znf469 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.344 | MLC1 | Zornitza Stark Gene: mlc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.343 | MLC1 | Zornitza Stark Classified gene: MLC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.343 | MLC1 | Zornitza Stark Gene: mlc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.342 | MKS1 | Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.341 | MKS1 | Zornitza Stark Classified gene: MKS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.341 | MKS1 | Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.340 | MKKS | Zornitza Stark Gene: mkks has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.340 | MKKS | Zornitza Stark Phenotypes for gene: MKKS were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.339 | MKKS | Zornitza Stark Classified gene: MKKS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.339 | MKKS | Zornitza Stark Gene: mkks has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.338 | MKKS | Zornitza Stark reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231), McKusick-Kaufman syndrome, MIM# 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.338 | LAMB3 | Zornitza Stark Gene: lamb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.338 | LAMB3 | Zornitza Stark Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.336 | LAMB3 | Zornitza Stark Classified gene: LAMB3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.336 | LAMB3 | Zornitza Stark Gene: lamb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.335 | LAMA2 | Zornitza Stark Gene: lama2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.335 | LAMA2 | Zornitza Stark Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital merosin-deficient to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.334 | LAMA2 | Zornitza Stark Classified gene: LAMA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.334 | LAMA2 | Zornitza Stark Gene: lama2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.333 | MITF | Zornitza Stark Gene: mitf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.331 | MGP | Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.330 | MGP | Zornitza Stark Classified gene: MGP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.330 | MGP | Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.329 | MGAT2 | Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.329 | MGAT2 | Zornitza Stark Classified gene: MGAT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.329 | MGAT2 | Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.328 | MFSD8 | Zornitza Stark Gene: mfsd8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.328 | MFSD8 | Zornitza Stark Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.326 | MFSD8 | Zornitza Stark Classified gene: MFSD8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.326 | MFSD8 | Zornitza Stark Gene: mfsd8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.325 | MFSD8 | Zornitza Stark reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: None; Publications: 31597037; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.325 | MFN2 | Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.323 | MFN2 | Zornitza Stark Classified gene: MFN2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.323 | MFN2 | Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.322 | MEN1 | Zornitza Stark Gene: men1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.322 | MEN1 | Zornitza Stark Phenotypes for gene: MEN1 were changed from Multiple endocrine neoplasia I to Multiple endocrine neoplasia 1, MIM#131100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.321 | MEN1 | Zornitza Stark reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM#131100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.321 | MEGF10 | Zornitza Stark Gene: megf10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.320 | MEGF10 | Zornitza Stark Classified gene: MEGF10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.320 | MEGF10 | Zornitza Stark Gene: megf10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.319 | MEFV | Zornitza Stark Gene: mefv has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.318 | MED25 | Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.318 | MED25 | Zornitza Stark Classified gene: MED25 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.318 | MED25 | Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.317 | MED12 | Zornitza Stark Gene: med12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.316 | MED12 | Zornitza Stark Classified gene: MED12 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.316 | MED12 | Zornitza Stark Gene: med12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.315 | MECP2 | Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.313 | MECP2 | Zornitza Stark Classified gene: MECP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.313 | MECP2 | Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.312 | MCPH1 | Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.312 | MCPH1 | Zornitza Stark Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive to Microcephaly 1, primary, autosomal recessive, MIM# 251200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.311 | MCPH1 | Zornitza Stark reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.311 | MCPH1 | Zornitza Stark Classified gene: MCPH1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.311 | MCPH1 | Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.310 | COQ8B | Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.310 | COQ8A | Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.309 | COQ7 | Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.309 | COQ4 | Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.309 | COLQ | Zornitza Stark Gene: colq has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.309 | CLN8 | Zornitza Stark Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.308 | CLN8 | Zornitza Stark edited their review of gene: CLN8: Changed phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.308 | CLN8 | Zornitza Stark Gene: cln8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.308 | CLN8 | Zornitza Stark Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.306 | CLN8 | Zornitza Stark Classified gene: CLN8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.306 | CLN8 | Zornitza Stark Gene: cln8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.305 | CLN8 | Zornitza Stark reviewed gene: CLN8: Rating: RED; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.305 | CLN6 | Zornitza Stark Gene: cln6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.305 | CLN6 | Zornitza Stark Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.303 | CLN6 | Zornitza Stark Classified gene: CLN6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.303 | CLN6 | Zornitza Stark Gene: cln6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.302 | CLN6 | Zornitza Stark reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.302 | CLN5 | Zornitza Stark Gene: cln5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.302 | CLN5 | Zornitza Stark Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.301 | CLN5 | Zornitza Stark Classified gene: CLN5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.301 | CLN5 | Zornitza Stark Gene: cln5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.300 | CLN5 | Zornitza Stark reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.300 | CLN3 | Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.300 | CLN3 | Zornitza Stark Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.299 | CLN3 | Zornitza Stark Classified gene: CLN3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.299 | CLN3 | Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.298 | CLN3 | Zornitza Stark reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.298 | CHRNG | Zornitza Stark Gene: chrng has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.297 | CHRNG | Zornitza Stark Classified gene: CHRNG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.297 | CHRNG | Zornitza Stark Gene: chrng has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.296 | CHRNE | Zornitza Stark Gene: chrne has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.295 | CHRND |
Zornitza Stark changed review comment from: Well established gene-disease association. Severe disorder, perinatal onset. Treatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors; to: Well established gene-disease association for bi-allelic variants. Single individual only with mono-allelic variant reported. Severe disorder, perinatal onset. Treatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors |
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| BabyScreen+ newborn screening v0.295 | CHRND | Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.293 | SLC5A2 | Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.291 | SLC5A2 | Zornitza Stark Classified gene: SLC5A2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.291 | SLC5A2 | Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.290 | CHRNA1 | Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.288 | CHAT | Zornitza Stark Gene: chat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.288 | CA5A | Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.288 | BTK | Zornitza Stark Gene: btk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.288 | BCS1L | Zornitza Stark Gene: bcs1l has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.287 | BCS1L | Zornitza Stark Classified gene: BCS1L as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.287 | BCS1L | Zornitza Stark Gene: bcs1l has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.286 | BCKDK | Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.286 | AUH | Zornitza Stark Gene: auh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.285 | AUH | Zornitza Stark Classified gene: AUH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.285 | AUH | Zornitza Stark Gene: auh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.284 | MCOLN1 | Zornitza Stark Gene: mcoln1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.284 | MCOLN1 | Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV to Mucolipidosis IV, MIM# 252650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.283 | MCOLN1 | Zornitza Stark Classified gene: MCOLN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.283 | MCOLN1 | Zornitza Stark Gene: mcoln1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.282 | ATP7B | Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.281 | ASL | Zornitza Stark Gene: asl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.281 | ARSB | Zornitza Stark Gene: arsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.281 | ARSB | Zornitza Stark Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) to Mucopolysaccharidosis VI (MPS6, MIM# 253200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.279 | ARSB | Zornitza Stark reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31142378; Phenotypes: Mucopolysaccharidosis VI (MPS6, MIM# 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.279 | ARG1 | Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.279 | AHCY | Zornitza Stark Gene: ahcy has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.278 | AGL | Zornitza Stark Gene: agl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.277 | SMN1 | Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.276 | GALE | Zornitza Stark Gene: gale has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.276 | GALK1 | Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.276 | GALT | Zornitza Stark Gene: galt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.276 | TAT | Zornitza Stark Gene: tat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.276 | TAT | Zornitza Stark reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinaemia, type II, MIM# 276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.276 | PCCB | Zornitza Stark Gene: pccb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.275 | PCCA | Zornitza Stark Gene: pcca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.275 | PCBD1 | Zornitza Stark Gene: pcbd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.275 | QDPR | Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.275 | PTS | Zornitza Stark Gene: pts has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.275 | PAH | Zornitza Stark Gene: pah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.275 | ETFB | Zornitza Stark Gene: etfb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.275 | ETFA | Zornitza Stark Gene: etfa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | ETFA |
Zornitza Stark changed review comment from: Well established gene-disease association. Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress. Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates, D,L-3-hydroxybutyrate Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis; to: Well established gene-disease association. Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress. Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates, D,L-3-hydroxybutyrate (PMID 31904027) Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis |
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| BabyScreen+ newborn screening v0.274 | NTRK1 | David Amor reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NR0B1 | David Amor reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital adrenal hypoplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NPHP4 | David Amor reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NPHP3 | David Amor reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NPHP1 | David Amor reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4, Nephronophthisis 1, juvenile, Senior-Loken syndrome-1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NOTCH3 | David Amor reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NOG | David Amor reviewed gene: NOG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type B2, Multiple synostoses syndrome 1, Stapes ankylosis with broad thumbs and toes, Symphalangism, proximal, 1A, Tarsal-carpal coalition syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NKX2-1 | David Amor reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, NKX2-1-Related Disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NIPAL4 | David Amor reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31532840; Phenotypes: Ichthyosis, congenital, autosomal recessive 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NHLRC1 | David Amor reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NHEJ1 | David Amor reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NF2 | David Amor reviewed gene: NF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis type 2 (NF2); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NF1 | David Amor reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31010905; Phenotypes: Neurofibromatosis type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NEU1 | David Amor reviewed gene: NEU1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NEK8 | David Amor reviewed gene: NEK8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NEK1 | David Amor reviewed gene: NEK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NEB | David Amor reviewed gene: NEB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 2, autosomal recessive, Arthrogryposis multiplex congenita 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NAGLU | David Amor reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | MYO6 | David Amor reviewed gene: MYO6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 22, Deafness, autosomal recessive 37; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | MYO3A | David Amor reviewed gene: MYO3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 30; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | MYO15A | David Amor reviewed gene: MYO15A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | MYH9 | David Amor reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | MYH3 | David Amor reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon) (AD), Arthrogryposis, distal, type 2B3 (Sheldon-Hall) (AD), Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (AR); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | MYBPC1 | David Amor reviewed gene: MYBPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lethal congenital contracture syndrome 4 (AR), Arthrogryposis, distal, type 1B; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | MUTYH | David Amor reviewed gene: MUTYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MUTYH Polyposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | MSX2 | David Amor reviewed gene: MSX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis, parietal foramina; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | ETFDH | Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.272 | HADHB | Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.272 | HADHA | Zornitza Stark Gene: hadha has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.271 | HADHA |
Zornitza Stark changed review comment from: Well established gene-disease association. Clinical presentation is characterised by early-onset cardiomyopathy, hypoglycaemia, neuropathy, and pigmentary retinopathy, and sudden death Treatment: IV glucose during acute episodes, avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin; to: Well established gene-disease association. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Treatment: IV glucose during acute episodes, avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin |
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| BabyScreen+ newborn screening v0.271 | MMAB | Zornitza Stark reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.271 | MMAA | Zornitza Stark Gene: mmaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.271 | MMAA | Zornitza Stark reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.271 | MUT | Zornitza Stark Gene: mut has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | ACADM | Zornitza Stark Gene: acadm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | MKKS | David Amor reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McKusick-Kaufman syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | LRP4 |
David Amor changed review comment from: Gene-disease association: strong but <1% of all CMS (very rare) Onset:infancy or childhood Treatment: Not clear that there is any treatment that helps, but early diagnosis may still be useful; to: Gene-disease association: strong but <1% of all CMS (very rare) Onset:infancy or childhood Treatment: Not clear that there is any treatment that helps, but early diagnosis may still be useful |
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| BabyScreen+ newborn screening v0.270 | MFSD8 | David Amor reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuronal ceroid lipofuscinosis-7 (CLN7); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | MEN1 | David Amor reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1 (MEN1); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | MCPH1 | David Amor reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | BTD | Zornitza Stark Gene: btd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | HLCS | Zornitza Stark Gene: hlcs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | GCDH | Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | CBS |
Zornitza Stark changed review comment from: Well established gene-disease association. Multi-system disorder, onset in infancy. In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature. Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219. Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids Paediatric actionable gene by ClinGen.; to: Well established gene-disease association. Multi-system disorder, onset in infancy. In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature. Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219. Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids Paediatric actionable gene by ClinGen. Note excluded from reproductive carrier screening tests due to poor mappability, for review. |
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| BabyScreen+ newborn screening v0.270 | CBS | Zornitza Stark Gene: cbs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | CBS | Zornitza Stark Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types to Homocystinuria (MIM# 236200) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | CFTR | Zornitza Stark Gene: cftr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | CFTR | Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | CYP21A2 | Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | CYP21A2 | Zornitza Stark reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | MMACHC | Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | SLC22A5 | Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | MT-RNR1 | Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | MT-RNR1 | Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | MT-RNR1 | Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.267 | MT-RNR1 |
Zornitza Stark gene: MT-RNR1 was added gene: MT-RNR1 was added to gNBS. Sources: Expert Review pharmacogenomic tags were added to gene: MT-RNR1. Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL Phenotypes for gene: MT-RNR1 were set to Aminoglycoside sensitivity Review for gene: MT-RNR1 was set to GREEN Added comment: The following variants have been associated with aminoglycoside-induced deafness: m.1555A>G m.1005T>C m.1095T>C Alerts can be placed in medical records to avoid aminoglycoside administration. Sources: Expert Review |
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| BabyScreen+ newborn screening v0.265 | MC2R | Zornitza Stark Gene: mc2r has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.265 | MC2R | Zornitza Stark reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.265 | MBTPS2 | Zornitza Stark Gene: mbtps2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.265 | MBTPS2 | Zornitza Stark Phenotypes for gene: MBTPS2 were changed from Ichthyosis follicularis, alopecia & photophobia to IFAP syndrome with or without BRESHECK syndrome MIM#308205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.264 | MBTPS2 | Zornitza Stark Classified gene: MBTPS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.264 | MBTPS2 | Zornitza Stark Gene: mbtps2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.263 | MARVELD2 | Zornitza Stark Gene: marveld2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.263 | MARVELD2 | Zornitza Stark Phenotypes for gene: MARVELD2 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 49, MIM# 610153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.262 | MAP2K2 | Zornitza Stark Gene: map2k2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.261 | MAP2K2 | Zornitza Stark Classified gene: MAP2K2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.261 | MAP2K2 | Zornitza Stark Gene: map2k2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.260 | MAP2K1 | Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.259 | MAP2K1 | Zornitza Stark Classified gene: MAP2K1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.259 | MAP2K1 | Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.258 | MAN2B1 | Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.258 | MAN2B1 | Zornitza Stark Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha to Mannosidosis, alpha-, types I and II, MIM# 248500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.257 | MAFB | Zornitza Stark Gene: mafb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.257 | MAFB | Zornitza Stark Phenotypes for gene: MAFB were changed from Multicentric carpotarsal osteolysis syndrome to Multicentric carpotarsal osteolysis syndrome (MIM#166300) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.255 | MAFB | Zornitza Stark reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 33975323; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.255 | MAD2L2 | Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.254 | MAD2L2 | Zornitza Stark Classified gene: MAD2L2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.254 | MAD2L2 | Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.253 | LTBP4 | Zornitza Stark Gene: ltbp4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.253 | LTBP4 | Zornitza Stark Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC to Cutis laxa, autosomal recessive, type IC (MIM# 613177) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.252 | LTBP4 | Zornitza Stark Classified gene: LTBP4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.252 | LTBP4 | Zornitza Stark Gene: ltbp4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.251 | LTBP4 | Zornitza Stark reviewed gene: LTBP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IC (MIM# 613177); Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.251 | LRTOMT | Zornitza Stark Gene: lrtomt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.251 | LRTOMT | Zornitza Stark Phenotypes for gene: LRTOMT were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 63, MIM# 611451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.250 | LRRC6 | Zornitza Stark Gene: lrrc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.250 | LRRC6 | Zornitza Stark Phenotypes for gene: LRRC6 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 19, MIM# 614935 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.249 | LRRC6 | Zornitza Stark Classified gene: LRRC6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.249 | LRRC6 | Zornitza Stark Gene: lrrc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.248 | LRRC6 | Zornitza Stark reviewed gene: LRRC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.248 | MCOLN1 | David Amor reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.248 | LRSAM1 | Zornitza Stark Gene: lrsam1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.246 | LRSAM1 | Zornitza Stark Classified gene: LRSAM1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.246 | LRSAM1 | Zornitza Stark Gene: lrsam1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.245 | LRPPRC | Zornitza Stark Gene: lrpprc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.244 | LRPPRC | Zornitza Stark Classified gene: LRPPRC as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.244 | LRPPRC | Zornitza Stark Gene: lrpprc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.243 | LRP5 | Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.243 | LRP5 | Zornitza Stark Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome to Osteoporosis-pseudoglioma syndrome, MIM# 259770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.241 | LRP5 | Zornitza Stark reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteoporosis-pseudoglioma syndrome, MIM# 259770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.241 | MCFD2 |
David Amor changed review comment from: Gene-disease association: strong but rare. Onset: birth Treatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?; to: Gene-disease association: strong but rare. Onset: birth Treatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding? |
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| BabyScreen+ newborn screening v0.241 | LRP4 | Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.240 | LRP2 | Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.239 | LRP2 | Zornitza Stark Classified gene: LRP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.239 | LRP2 | Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.238 | LOXHD1 | Zornitza Stark Gene: loxhd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.238 | LOXHD1 | Zornitza Stark Phenotypes for gene: LOXHD1 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 77, MIM# 613079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.237 | LOXHD1 | Zornitza Stark reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 77, MIM# 613079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.237 | LMX1B | Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.236 | LMX1B | Zornitza Stark Classified gene: LMX1B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.236 | LMX1B | Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.235 | LMOD3 | Zornitza Stark Gene: lmod3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.234 | LMOD3 | Zornitza Stark Classified gene: LMOD3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.234 | LMOD3 | Zornitza Stark Gene: lmod3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.233 | LMBRD1 | Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.233 | LITAF | Zornitza Stark Gene: litaf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.231 | LITAF | Zornitza Stark Classified gene: LITAF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.231 | LITAF | Zornitza Stark Gene: litaf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.230 | LIPA | Zornitza Stark Gene: lipa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.229 | LIG4 | Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.229 | MBTPS2 | David Amor reviewed gene: MBTPS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: IFAP syndrome: ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.229 | MAN2B1 | David Amor reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-mannosidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.229 | MAFB | David Amor reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Multicentric carpotarsal osteolysis syndrome, renal failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.229 | LIG4 | Zornitza Stark Phenotypes for gene: LIG4 were changed from Severe combined immunodeficiency with sensitivity to ionizing radiation to LIG4 syndrome, MIM# 606593 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.228 | LIFR | Zornitza Stark Gene: lifr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.227 | LIFR | Zornitza Stark Classified gene: LIFR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.227 | LIFR | Zornitza Stark Gene: lifr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.226 | LHX4 | Zornitza Stark Gene: lhx4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.225 | LHX3 | Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.225 | LHFPL5 | Zornitza Stark Gene: lhfpl5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.225 | LHFPL5 | Zornitza Stark Phenotypes for gene: LHFPL5 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 67, MIM# 610265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.224 | LHFPL5 | Zornitza Stark reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 67, MIM# 610265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.224 | LEPR | Zornitza Stark Gene: lepr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.224 | LEPR | Zornitza Stark Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency to Obesity, morbid, due to leptin receptor deficiency (MIM#614963) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.222 | LEPR | Zornitza Stark reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 33137293; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.222 | LDLR |
Zornitza Stark changed review comment from: ClinGen: 'strong actionability' in paediatric patients. For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.; to: ClinGen: 'strong actionability' in paediatric patients. For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. However, there is also a severe, bi-allelic form with onset in early childhood. Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment. |
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| BabyScreen+ newborn screening v0.222 | LARS2 | Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.222 | LARS2 | Zornitza Stark Phenotypes for gene: LARS2 were changed from Perrault syndrome to Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Perrault syndrome 4, MIM# 615300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.221 | LARS2 | Zornitza Stark Classified gene: LARS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.221 | LARS2 | Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.220 | LARS2 | Zornitza Stark reviewed gene: LARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.220 | LDLR | Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.218 | LARGE1 | Zornitza Stark Gene: large1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.217 | LARGE1 | Zornitza Stark Classified gene: LARGE1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.217 | LARGE1 | Zornitza Stark Gene: large1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.216 | LAMTOR2 | Zornitza Stark Gene: lamtor2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.215 | LAMTOR2 | Zornitza Stark Classified gene: LAMTOR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.215 | LAMTOR2 | Zornitza Stark Gene: lamtor2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.214 | LAMP2 | Zornitza Stark Gene: lamp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.212 | LAMP2 | Zornitza Stark Classified gene: LAMP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.212 | LAMP2 | Zornitza Stark Gene: lamp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.211 | LAMC2 | Zornitza Stark Gene: lamc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.211 | LAMC2 | Zornitza Stark Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 3B, severe, MIM# 619786 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.210 | LAMC2 | Zornitza Stark Classified gene: LAMC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.210 | LAMC2 | Zornitza Stark Gene: lamc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.209 | LAMC2 | Zornitza Stark reviewed gene: LAMC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 3B, severe, MIM# 619786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.209 | LAMB3 | Zornitza Stark reviewed gene: LAMB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type IA, MIM# 104530, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.209 | LAMB2 | Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.208 | LAMB2 | Zornitza Stark Classified gene: LAMB2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.208 | LAMB2 | Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.207 | LAMA3 | Zornitza Stark Gene: lama3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.207 | LAMA3 | Zornitza Stark Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 2B, severe, MIM# 619784 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.206 | LAMA3 | Zornitza Stark Classified gene: LAMA3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.206 | LAMA3 | Zornitza Stark Gene: lama3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.205 | LAMA3 | Zornitza Stark reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 2B, severe, MIM# 619784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.205 | LAMA2 | Zornitza Stark reviewed gene: LAMA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.205 | L1CAM | Zornitza Stark reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.205 | LRRC6 | David Amor reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.205 | LRP5 | David Amor edited their review of gene: LRP5: Changed phenotypes: osteoporosis-pseudoglioma syndrome, cause exudative vireoretinopathy, osteopetrosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.205 | CPT2 | Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.203 | CPT1A | Zornitza Stark Gene: cpt1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.202 | BCKDHB | Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.201 | BCKDHA | Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.200 | DBT | Zornitza Stark Gene: dbt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.200 | ASS1 | Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | ACAT1 | Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | HMGCL | Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | LEPR | David Amor reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: severe early onset obesity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | LAMC2 | David Amor reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | LAMB3 | David Amor reviewed gene: LAMB3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | LAMA3 | David Amor reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | L1CAM | David Amor reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, X-linked corpus callosum agenesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | L1CAM | David Amor reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, X-linked corpus callosu agenesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.198 | BRAF | Zornitza Stark Gene: braf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.198 | BRAF | Zornitza Stark Classified gene: BRAF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.198 | BRAF | Zornitza Stark Gene: braf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.197 | BIN1 | Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.197 | BIN1 | Zornitza Stark Phenotypes for gene: BIN1 were changed from Myopathy, centronuclear, autosomal recessive to Centronuclear myopathy 2, MIM# 255200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.196 | BIN1 | Zornitza Stark Classified gene: BIN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.196 | BIN1 | Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.195 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.192 | BICD2 | Zornitza Stark Classified gene: BICD2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.192 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.191 | ATP6V1B1 | Zornitza Stark Gene: atp6v1b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.191 | ATP6V1B1 | Zornitza Stark Phenotypes for gene: ATP6V1B1 were changed from Renal tubular acidosis & hearing loss, MIM#267300 to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.190 | ATP8B1 | Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.190 | ATP8B1 | Zornitza Stark Phenotypes for gene: ATP8B1 were changed from Cholestasis, progressive familial intrahepatic 1 to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.189 | ATP8B1 | Zornitza Stark Classified gene: ATP8B1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.189 | ATP8B1 | Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.188 | ATP8B1 | Zornitza Stark reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.188 | ACVRL1 | Zornitza Stark Gene: acvrl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.188 | ACVRL1 | Zornitza Stark Classified gene: ACVRL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.188 | ACVRL1 | Zornitza Stark Gene: acvrl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.187 | ACVRL1 | Zornitza Stark reviewed gene: ACVRL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.187 | ATP6V0A4 | Zornitza Stark Gene: atp6v0a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.187 | ACVR1 | Zornitza Stark Gene: acvr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.187 | ACVR1 | Zornitza Stark Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva to Fibrodysplasia ossificans progressiva, MIM# 135100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.185 | ACVR1 | Zornitza Stark Classified gene: ACVR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.185 | ACVR1 | Zornitza Stark Gene: acvr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.184 | ACVR1 | Zornitza Stark reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: None; Publications: 16642017, 29089047, 35384641; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.184 | ACOX1 | Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.181 | ACOX1 | Zornitza Stark Classified gene: ACOX1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.181 | ACOX1 | Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.180 | ALDOB | Zornitza Stark Gene: aldob has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.179 | ATP2B2 | Zornitza Stark Gene: atp2b2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.178 | ATP2B2 | Zornitza Stark Classified gene: ATP2B2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.178 | ATP2B2 | Zornitza Stark Gene: atp2b2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.177 | ATP1A2 | Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.177 | ATP1A2 | Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Hemiplegic migraine to Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98, MIM# 619605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.174 | ATP1A2 | Zornitza Stark Classified gene: ATP1A2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.174 | ATP1A2 | Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.173 | ATP1A2 | Zornitza Stark reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy 98, MIM# 619605; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.173 | ALG9 | Zornitza Stark Gene: alg9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.172 | ALG9 | Zornitza Stark Classified gene: ALG9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.172 | ALG9 | Zornitza Stark Gene: alg9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.171 | ALG8 | Zornitza Stark Gene: alg8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.170 | ALG8 | Zornitza Stark Classified gene: ALG8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.170 | ALG8 | Zornitza Stark Gene: alg8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.169 | ALG6 | Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.168 | ALG6 | Zornitza Stark Classified gene: ALG6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.168 | ALG6 | Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.167 | ALG3 | Zornitza Stark Gene: alg3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.166 | ALG3 | Zornitza Stark Classified gene: ALG3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.166 | ALG3 | Zornitza Stark Gene: alg3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.165 | ALG12 | Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.164 | ALG12 | Zornitza Stark Classified gene: ALG12 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.164 | ALG12 | Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.163 | ALG1 | Zornitza Stark Gene: alg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.162 | ALG1 | Zornitza Stark Classified gene: ALG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.162 | ALG1 | Zornitza Stark Gene: alg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.161 | ATP7A |
Zornitza Stark changed review comment from: Well established gene-disease association. ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein. Menkes disease typically presents in infancy, and if untreated is fatal. Typical age at diagnosis is ~8 months. Females are typically asymptomatic. In Australia, the birth incidence of MD is reported to be much higher (1/40,000-100,000 cf 1 in 300,000 elsewhere), which may be due to a founder effect Treatment: subcutaneous injections of copper histidine or copper chloride ClinGen has assessed as moderate evidence for actionability. Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.; to: Well established gene-disease association. ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein. Menkes disease typically presents in infancy, and if untreated is fatal. Typical age at diagnosis is ~8 months. Females are typically asymptomatic. In Australia, the birth incidence of MD is reported to be much higher (1/40,000-100,000 cf 1 in 300,000 elsewhere), which may be due to a founder effect. Non-genetic confirmatory testing: serum ceruloplasmin and copper, plasma catechols Treatment: subcutaneous injections of copper histidine or copper chloride ClinGen has assessed as moderate evidence for actionability. Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms. |
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| BabyScreen+ newborn screening v0.161 | ATP7A | Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.160 | ATRX | Zornitza Stark Gene: atrx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.159 | ATRX | Zornitza Stark Classified gene: ATRX as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.159 | ATRX | Zornitza Stark Gene: atrx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.158 | BAAT | Zornitza Stark Gene: baat has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.157 | BAAT | Zornitza Stark Classified gene: BAAT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.157 | BAAT | Zornitza Stark Gene: baat has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.156 | B3GLCT | Zornitza Stark Gene: b3glct has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.155 | B3GLCT | Zornitza Stark Classified gene: B3GLCT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.155 | B3GLCT | Zornitza Stark Gene: b3glct has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.154 | BBS9 | Zornitza Stark Gene: bbs9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.153 | BBS9 | Zornitza Stark Classified gene: BBS9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.153 | BBS9 | Zornitza Stark Gene: bbs9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.152 | BBS7 | Zornitza Stark Gene: bbs7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.151 | BBS7 | Zornitza Stark Classified gene: BBS7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.151 | BBS7 | Zornitza Stark Gene: bbs7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.150 | BBS5 | Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.149 | BBS5 | Zornitza Stark Classified gene: BBS5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.149 | BBS5 | Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.148 | BBS4 | Zornitza Stark Gene: bbs4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.147 | BBS4 | Zornitza Stark Classified gene: BBS4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.147 | BBS4 | Zornitza Stark Gene: bbs4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.146 | BBS2 | Zornitza Stark Gene: bbs2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.145 | BBS2 | Zornitza Stark Classified gene: BBS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.145 | BBS2 | Zornitza Stark Gene: bbs2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.144 | BBS12 | Zornitza Stark Gene: bbs12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.143 | BBS12 | Zornitza Stark Classified gene: BBS12 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.143 | BBS12 | Zornitza Stark Gene: bbs12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.142 | BBS10 | Zornitza Stark Gene: bbs10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.141 | BBS10 | Zornitza Stark Classified gene: BBS10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.141 | BBS10 | Zornitza Stark Gene: bbs10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.140 | BBS1 | Zornitza Stark Gene: bbs1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.139 | BBS1 | Zornitza Stark Classified gene: BBS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.139 | BBS1 | Zornitza Stark Gene: bbs1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.138 | ATP6V1B1 | Zornitza Stark reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.138 | ATP6V0A4 | Zornitza Stark reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular acidosis, distal, autosomal recessive, MIM#602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.138 | ATP6V0A2 | Zornitza Stark Gene: atp6v0a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.138 | ATP6V0A2 | Zornitza Stark Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.137 | ATP6V0A2 | Zornitza Stark Classified gene: ATP6V0A2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.137 | ATP6V0A2 | Zornitza Stark Gene: atp6v0a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.136 | ATP6V0A2 | Zornitza Stark reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.136 | ATP2A1 | Zornitza Stark Gene: atp2a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.135 | ATP2A1 | Zornitza Stark Classified gene: ATP2A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.135 | ATP2A1 | Zornitza Stark Gene: atp2a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.134 | ATM | Zornitza Stark Gene: atm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.134 | ATM | Zornitza Stark Phenotypes for gene: ATM were changed from Ataxia-telangiectasia to Ataxia-telangiectasia, MIM# 208900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.133 | ATM | Zornitza Stark Classified gene: ATM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.133 | ATM | Zornitza Stark Gene: atm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.132 | ATM | Zornitza Stark reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.132 | ASPA | Zornitza Stark Gene: aspa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.131 | ASPA | Zornitza Stark Classified gene: ASPA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.131 | ASPA | Zornitza Stark Gene: aspa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.130 | ARPC1B | Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.130 | ALMS1 | Zornitza Stark Gene: alms1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.129 | ALMS1 | Zornitza Stark Classified gene: ALMS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.129 | ALMS1 | Zornitza Stark Gene: alms1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.128 | ARX | Zornitza Stark Gene: arx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.127 | ARX | Zornitza Stark Classified gene: ARX as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.127 | ARX | Zornitza Stark Gene: arx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.126 | ARSA | Zornitza Stark Gene: arsa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.125 | ARPC1B | Zornitza Stark reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28368018, 33679784; Phenotypes: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, MIM# 617718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.125 | ARMC4 | Zornitza Stark Gene: armc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.125 | ARMC4 | Zornitza Stark Phenotypes for gene: ARMC4 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 23, MIM# 615451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.124 | ARMC4 | Zornitza Stark Classified gene: ARMC4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.124 | ARMC4 | Zornitza Stark Gene: armc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.123 | ARMC4 | Zornitza Stark reviewed gene: ARMC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 23, MIM# 615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.123 | ARFGEF2 | Zornitza Stark Gene: arfgef2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.122 | ARFGEF2 | Zornitza Stark Classified gene: ARFGEF2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.122 | ARFGEF2 | Zornitza Stark Gene: arfgef2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.121 | AR | Zornitza Stark Gene: ar has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.121 | AR | Zornitza Stark Phenotypes for gene: AR were changed from Androgen insensitivity, MIM# 300068 to Hypospadias 1, X-linked MIM#30063; Androgen insensitivity MIM#300068; Androgen insensitivity, partial, with or without breast cancer MIM#312300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.120 | AR | Zornitza Stark Classified gene: AR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.120 | AR | Zornitza Stark Gene: ar has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.119 | AR | Zornitza Stark reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypospadias 1, X-linked MIM#30063, Androgen insensitivity MIM#300068, Androgen insensitivity, partial, with or without breast cancer MIM#312300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.119 | AVP | Zornitza Stark Gene: avp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.119 | AVP | Zornitza Stark Classified gene: AVP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.119 | AVP | Zornitza Stark Gene: avp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.118 | AVP |
Zornitza Stark gene: AVP was added gene: AVP was added to gNBS. Sources: Expert Review treatable, clinical trial tags were added to gene: AVP. Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AVP were set to 32052034; 31238300 Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal MIM#125700 Review for gene: AVP was set to GREEN Added comment: Well established gene-disease association. Onset in childhood with polydipsia and polyuria. Can be life-threatening. Treatment: DDAVP. Clinical trials. Sources: Expert Review |
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| BabyScreen+ newborn screening v0.117 | AVPR2 | Zornitza Stark Gene: avpr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.117 | AVPR2 | Zornitza Stark reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, 1 304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.117 | AQP2 | Zornitza Stark Gene: aqp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.116 | AQP2 | Zornitza Stark reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7537761, 11536078; Phenotypes: Diabetes insipidus, nephrogenic, MIM#125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.116 | APTX | Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.114 | APTX | Zornitza Stark Classified gene: APTX as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.114 | APTX | Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.113 | APRT | Zornitza Stark Gene: aprt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.113 | APRT | Zornitza Stark Classified gene: APRT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.113 | APRT | Zornitza Stark Gene: aprt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.112 | APOB | Zornitza Stark Gene: apob has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.109 | APOB | Zornitza Stark Classified gene: APOB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.109 | APOB | Zornitza Stark Gene: apob has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.107 | ARID1B | Zornitza Stark Gene: arid1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.107 | ARID1B | Zornitza Stark Phenotypes for gene: ARID1B were changed from Coffin-Siris syndrome to Coffin-Siris syndrome 1 MIM#135900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.106 | ARID1B | Zornitza Stark Classified gene: ARID1B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.106 | ARID1B | Zornitza Stark Gene: arid1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.105 | ARID1B | Zornitza Stark reviewed gene: ARID1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 1 MIM#135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.105 | APC | Zornitza Stark Gene: apc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.105 | APC | Zornitza Stark Phenotypes for gene: APC were changed from Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated to Adenomatous polyposis coli, MIM# 175100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.104 | APC | Zornitza Stark Classified gene: APC as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.104 | APC | Zornitza Stark Gene: apc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.103 | APC | Zornitza Stark reviewed gene: APC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomatous polyposis coli, MIM# 175100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.103 | AP4M1 | Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.103 | AP4M1 | Zornitza Stark Classified gene: AP4M1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.103 | AP4M1 | Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.102 | AP4M1 | Zornitza Stark reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.102 | AP4E1 | Zornitza Stark Gene: ap4e1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.102 | AP4E1 | Zornitza Stark Classified gene: AP4E1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.102 | AP4E1 | Zornitza Stark Gene: ap4e1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.101 | AP4E1 | Zornitza Stark reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.101 | AP4B1 | Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.101 | AP4B1 | Zornitza Stark Classified gene: AP4B1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.101 | AP4B1 | Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.100 | AP4B1 | Zornitza Stark reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.100 | AP3B1 | Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.97 | ANTXR2 | Zornitza Stark Gene: antxr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.97 | ANTXR2 | Zornitza Stark Phenotypes for gene: ANTXR2 were changed from Hyaline fibromatosis syndrome to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.96 | ANTXR2 | Zornitza Stark Classified gene: ANTXR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.96 | ANTXR2 | Zornitza Stark Gene: antxr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.95 | ANTXR2 | Zornitza Stark reviewed gene: ANTXR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.95 | ANO10 | Zornitza Stark Gene: ano10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.95 | ANO10 | Zornitza Stark Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 to Spinocerebellar ataxia, autosomal recessive 10, MIM#613728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.94 | ANO10 | Zornitza Stark Classified gene: ANO10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.94 | ANO10 | Zornitza Stark Gene: ano10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.93 | ANO10 | Zornitza Stark reviewed gene: ANO10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, MIM#613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.93 | ANKRD26 | Zornitza Stark Gene: ankrd26 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.92 | ANKRD26 | Zornitza Stark Classified gene: ANKRD26 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.92 | ANKRD26 | Zornitza Stark Gene: ankrd26 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.91 | ANKH | Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.91 | ANKH | Zornitza Stark Phenotypes for gene: ANKH were changed from Craniometaphyseal dysplasia to Craniometaphyseal dysplasia MIM#123000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.90 | ANKH | Zornitza Stark Classified gene: ANKH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.90 | ANKH | Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.89 | ANKH | Zornitza Stark reviewed gene: ANKH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometaphyseal dysplasia MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.89 | ANK2 | Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.89 | ANK2 | Zornitza Stark Classified gene: ANK2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.89 | ANK2 | Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.88 | ANK1 | Zornitza Stark Gene: ank1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.88 | ANK1 | Zornitza Stark Phenotypes for gene: ANK1 were changed from Spherocytosis to Spherocytosis, type 1 MIM#182900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.86 | ANK1 | Zornitza Stark Classified gene: ANK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.86 | ANK1 | Zornitza Stark Gene: ank1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.85 | ANK1 | Zornitza Stark reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spherocytosis, type 1 MIM#182900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.85 | AMT | Zornitza Stark Gene: amt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.84 | AMT | Zornitza Stark Classified gene: AMT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.84 | AMT | Zornitza Stark Gene: amt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.83 | AMN | Zornitza Stark Gene: amn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.83 | AMN |
Zornitza Stark changed review comment from: Well established gene-disease association. Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anaemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood.; to: Well established gene-disease association. Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anaemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Clinical features include failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment: cobalamin. |
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| BabyScreen+ newborn screening v0.83 | ALPL | Zornitza Stark Gene: alpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.83 | ALPL | Zornitza Stark Phenotypes for gene: ALPL were changed from Hypophosphatasia, MIM#241500 to Hypophosphatasia, childhood OMIM#241510; Hypophosphatasia, infantile OMIM#241500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.81 | ALPL | Zornitza Stark reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia, childhood OMIM#241510, Hypophosphatasia, infantile OMIM#241500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.81 | AMELX | Zornitza Stark Gene: amelx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.81 | AMELX | Zornitza Stark Phenotypes for gene: AMELX were changed from Amelogenesis imperfecta to Amelogenesis imperfecta, type 1E, MIM# 301200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.80 | AMELX | Zornitza Stark Classified gene: AMELX as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.80 | AMELX | Zornitza Stark Gene: amelx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.79 | AMELX | Zornitza Stark reviewed gene: AMELX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type 1E, MIM# 301200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.79 | ALX4 | Zornitza Stark Gene: alx4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.79 | ALX4 | Zornitza Stark Phenotypes for gene: ALX4 were changed from Parietal foramina 2 to Frontonasal dysplasia 2 MIM# 613451; Parietal foramina 2 MIM# 609597; {Craniosynostosis 5, susceptibility to} MIM#615529 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.77 | ALX4 | Zornitza Stark Classified gene: ALX4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.77 | ALX4 | Zornitza Stark Gene: alx4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.76 | ALX4 | Zornitza Stark reviewed gene: ALX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 2 MIM# 613451, Parietal foramina 2 MIM# 609597, {Craniosynostosis 5, susceptibility to} MIM#615529; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.76 | ALOXE3 | Zornitza Stark Gene: aloxe3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.76 | ALOXE3 | Zornitza Stark Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 3, MIM#606545 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.75 | ALOXE3 | Zornitza Stark Classified gene: ALOXE3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.75 | ALOXE3 | Zornitza Stark Gene: aloxe3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.74 | ALOXE3 | Zornitza Stark reviewed gene: ALOXE3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM#606545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.74 | ALS2 | Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.73 | ALS2 | Zornitza Stark Classified gene: ALS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.73 | ALS2 | Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.72 | ALOX12B | Zornitza Stark Gene: alox12b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.72 | ALOX12B | Zornitza Stark Phenotypes for gene: ALOX12B were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.71 | ALOX12B | Zornitza Stark Classified gene: ALOX12B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.71 | ALOX12B | Zornitza Stark Gene: alox12b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.70 | ALOX12B | Zornitza Stark reviewed gene: ALOX12B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.70 | ALG14 | Zornitza Stark Gene: alg14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.70 | ALG14 | Zornitza Stark Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.69 | ALG14 | Zornitza Stark Classified gene: ALG14 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.69 | ALG14 | Zornitza Stark Gene: alg14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.68 | ALG14 | Zornitza Stark reviewed gene: ALG14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036, Disorder of N-glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.68 | AKR1D1 | Zornitza Stark Gene: akr1d1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.68 | AK2 | Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.68 | ADGRG1 | Zornitza Stark Gene: adgrg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.67 | ADGRG1 | Zornitza Stark Classified gene: ADGRG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.67 | ADGRG1 | Zornitza Stark Gene: adgrg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.65 | ADAMTS13 | Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.65 | AK2 | Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, MIM# 267500; MONDO:0009973 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.63 | AK2 | Zornitza Stark reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.63 | AGRN | Zornitza Stark Gene: agrn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.62 | ADA | Zornitza Stark Gene: ada has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.60 | ACTN1 | Zornitza Stark Gene: actn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.59 | ACTN1 | Zornitza Stark Classified gene: ACTN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.59 | ACTN1 | Zornitza Stark Gene: actn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.58 | ABCG5 | Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.58 | ABCG5 | Zornitza Stark Phenotypes for gene: ABCG5 were changed from Sitosterolemia to Sitosterolaemia 2, MIM# 618666 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.57 | ABCG5 | Zornitza Stark reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolaemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.57 | ABCD1 | Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.56 | ABCC6 | Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.55 | ABCC2 | Zornitza Stark Gene: abcc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.55 | ABCC2 | Zornitza Stark Classified gene: ABCC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.55 | ABCC2 | Zornitza Stark Gene: abcc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.54 | ABCB4 | Zornitza Stark Gene: abcb4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.54 | ABCB4 | Zornitza Stark Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972); Gallbladder disease 1 (MIM#600803) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.52 | ABCB4 | Zornitza Stark Classified gene: ABCB4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.52 | ABCB4 | Zornitza Stark Gene: abcb4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.51 | ABCB4 | Zornitza Stark reviewed gene: ABCB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347, disorder of bile acid metabolism, Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972), Gallbladder disease 1 (MIM#600803); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.51 | ABCB11 | Zornitza Stark Gene: abcb11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.51 | ABCB11 | Zornitza Stark Phenotypes for gene: ABCB11 were changed from Cholestasis, progressive familial intrahepatic 2 to Cholestasis, progressive familial intrahepatic 2, MIM# 601847; Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.50 | ABCB11 | Zornitza Stark Classified gene: ABCB11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.50 | ABCB11 | Zornitza Stark Gene: abcb11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.49 | ABCB11 | Zornitza Stark reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 2, MIM# 601847, Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.49 | ABCA4 | Zornitza Stark Gene: abca4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.48 | ABCA4 | Zornitza Stark Classified gene: ABCA4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.48 | ABCA4 | Zornitza Stark Gene: abca4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.47 | ABCA3 | Zornitza Stark Gene: abca3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.46 | ABCA3 | Zornitza Stark Classified gene: ABCA3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.46 | ABCA3 | Zornitza Stark Gene: abca3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.45 | ABCA12 | Zornitza Stark Gene: abca12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.45 | ABCA12 | Zornitza Stark Phenotypes for gene: ABCA12 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.44 | ABCA12 | Zornitza Stark Classified gene: ABCA12 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.44 | ABCA12 | Zornitza Stark Gene: abca12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.43 | ABCA12 | Zornitza Stark reviewed gene: ABCA12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.43 | AARS | Zornitza Stark Gene: aars has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.41 | AARS | Zornitza Stark Classified gene: AARS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.41 | AARS | Zornitza Stark Gene: aars has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.40 | AAAS | Zornitza Stark Gene: aaas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.40 | AAAS | Zornitza Stark Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome to Achalasia-addisonianism-alacrimia syndrome, MIM#231550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.38 | AAAS | Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29255950; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.38 | ALDH7A1 | Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.37 | ALDH5A1 | Zornitza Stark Gene: aldh5a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.36 | ALDH5A1 | Zornitza Stark Classified gene: ALDH5A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.36 | ALDH5A1 | Zornitza Stark Gene: aldh5a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.35 | ALDH3A2 | Zornitza Stark Gene: aldh3a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.34 | ALDH3A2 | Zornitza Stark Classified gene: ALDH3A2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.34 | ALDH3A2 | Zornitza Stark Gene: aldh3a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.33 | ALDH18A1 | Zornitza Stark Gene: aldh18a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.33 | ALDH18A1 | Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.31 | ALDH18A1 | Zornitza Stark Classified gene: ALDH18A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.31 | ALDH18A1 | Zornitza Stark Gene: aldh18a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.30 | ALDH18A1 | Zornitza Stark reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIIA MIM#219150, Spastic paraplegia 9A, autosomal dominant MIM#601162, Spastic paraplegia 9B, autosomal recessive MIM#616586, Cutis laxa, autosomal dominant 3 MIM#616603, disorders of ornithine or proline metabolism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.30 | ALB | Zornitza Stark Gene: alb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.29 | ALB | Zornitza Stark Classified gene: ALB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.29 | ALB | Zornitza Stark Gene: alb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.28 | ALAS2 | Zornitza Stark Gene: alas2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.28 | ALAS2 | Zornitza Stark Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, X-linked to Anaemia, sideroblastic, 1, MIM# 300751; Protoporphyria, erythropoietic, X-linked, MIM# 300752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.27 | ALAS2 | Zornitza Stark Classified gene: ALAS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.27 | ALAS2 | Zornitza Stark Gene: alas2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.26 | ALAS2 | Zornitza Stark reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anaemia, sideroblastic, 1, MIM# 300751, Protoporphyria, erythropoietic, X-linked, MIM# 300752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.26 | AKR1D1 | Zornitza Stark reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12970144, 20522910, 30373615; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.26 | AIRE | Zornitza Stark Gene: aire has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.26 | AIRE | Zornitza Stark Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.25 | AIRE | Zornitza Stark reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: 32557834; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.25 | AIFM1 | Zornitza Stark Gene: aifm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.25 | AIFM1 | Zornitza Stark Phenotypes for gene: AIFM1 were changed from Cowchock syndrome to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.24 | AIFM1 | Zornitza Stark Classified gene: AIFM1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.24 | AIFM1 | Zornitza Stark Gene: aifm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.23 | AIFM1 | Zornitza Stark reviewed gene: AIFM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.23 | AHI1 | Zornitza Stark Gene: ahi1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.21 | AHI1 | Zornitza Stark Classified gene: AHI1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.21 | AHI1 | Zornitza Stark Gene: ahi1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.20 | AGXT | Zornitza Stark Gene: agxt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.18 | AGA | Zornitza Stark Gene: aga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.17 | AGA | Zornitza Stark Classified gene: AGA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.17 | AGA | Zornitza Stark Gene: aga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.16 | ADK | Zornitza Stark Gene: adk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.16 | ADK | Zornitza Stark Phenotypes for gene: ADK were changed from Hypermethioninemia due to adenosine kinase deficiency to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.14 | ADK | Zornitza Stark Classified gene: ADK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.14 | ADK | Zornitza Stark Gene: adk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.13 | ADK | Zornitza Stark reviewed gene: ADK: Rating: RED; Mode of pathogenicity: None; Publications: 21963049, 17120046, 33309011; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.13 | ADAR | Zornitza Stark Gene: adar has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.13 | ADAR | Zornitza Stark Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria to Aicardi-Goutieres syndrome 6, MIM# 615010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.10 | ADAR | Zornitza Stark Classified gene: ADAR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.10 | ADAR | Zornitza Stark Gene: adar has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.9 | ADAMTSL2 | Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.9 | ADAMTSL2 | Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 to Geleophysic dysplasia 1, MIM# 231050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.8 | ADAMTSL2 | Zornitza Stark Classified gene: ADAMTSL2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.8 | ADAMTSL2 | Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.7 | ADAMTSL2 | Zornitza Stark reviewed gene: ADAMTSL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Geleophysic dysplasia 1, MIM# 231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.7 | ACTN4 | Zornitza Stark Gene: actn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.7 | ACTN4 | Zornitza Stark Phenotypes for gene: ACTN4 were changed from Glomerulosclerosis, focal segmental, 1 to Glomerulosclerosis, focal segmental, 1, MIM#603278 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.6 | ACTN4 | Zornitza Stark Classified gene: ACTN4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.6 | ACTN4 | Zornitza Stark Gene: actn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.5 | ACTN4 | Zornitza Stark reviewed gene: ACTN4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glomerulosclerosis, focal segmental, 1, MIM#603278; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.5 | ACTG2 | Zornitza Stark Gene: actg2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.5 | ACTG2 | Zornitza Stark Phenotypes for gene: ACTG2 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Visceral myopathy, MIM#155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.4 | ACTG2 | Zornitza Stark Classified gene: ACTG2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.4 | ACTG2 | Zornitza Stark Gene: actg2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.3 | ACTG2 | Zornitza Stark reviewed gene: ACTG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Visceral myopathy, MIM#155310, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.3 | ACE | Zornitza Stark Gene: ace has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.3 | ACE | Zornitza Stark Phenotypes for gene: ACE were changed from Renal tubular dysgenesis to Renal tubular dysgenesis, MIM# 267430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1 | ACE | Zornitza Stark Classified gene: ACE as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1 | ACE | Zornitza Stark Gene: ace has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | ACE | Zornitza Stark reviewed gene: ACE: Rating: RED; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | YARS2 |
Zornitza Stark gene: YARS2 was added gene: YARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia |
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| BabyScreen+ newborn screening v0.0 | WNT3 |
Zornitza Stark gene: WNT3 was added gene: WNT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT3 were set to Tetra-amelia, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | WDR35 |
Zornitza Stark gene: WDR35 was added gene: WDR35 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia |
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| BabyScreen+ newborn screening v0.0 | WDR19 |
Zornitza Stark gene: WDR19 was added gene: WDR19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to Nephronophthisis |
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| BabyScreen+ newborn screening v0.0 | VPS53 |
Zornitza Stark gene: VPS53 was added gene: VPS53 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS53 were set to Progressive cerebello-cerebral atrophy |
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| BabyScreen+ newborn screening v0.0 | UTP4 |
Zornitza Stark gene: UTP4 was added gene: UTP4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: UTP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UTP4 were set to North American Indian childhood cirrhosis |
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| BabyScreen+ newborn screening v0.0 | TUBA8 |
Zornitza Stark gene: TUBA8 was added gene: TUBA8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia |
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| BabyScreen+ newborn screening v0.0 | TSPYL1 |
Zornitza Stark gene: TSPYL1 was added gene: TSPYL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome |
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| BabyScreen+ newborn screening v0.0 | TRIP11 |
Zornitza Stark gene: TRIP11 was added gene: TRIP11 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIP11 were set to Achondrogenesis type 1A |
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| BabyScreen+ newborn screening v0.0 | TRHR |
Zornitza Stark gene: TRHR was added gene: TRHR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRHR were set to Thyrotropin-releasing hormone resistance, generalized |
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| BabyScreen+ newborn screening v0.0 | TRH |
Zornitza Stark gene: TRH was added gene: TRH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TRH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRH were set to Thyrotropin-releasing hormone deficiency |
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| BabyScreen+ newborn screening v0.0 | TPRN |
Zornitza Stark gene: TPRN was added gene: TPRN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TPRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPRN were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | TMC8 |
Zornitza Stark gene: TMC8 was added gene: TMC8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMC8 were set to Epidermodysplasia verruciformi |
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| BabyScreen+ newborn screening v0.0 | THBS1 |
Zornitza Stark gene: THBS1 was added gene: THBS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: THBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THBS1 were set to Pulmonary hypertension |
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| BabyScreen+ newborn screening v0.0 | TGFB3 |
Zornitza Stark gene: TGFB3 was added gene: TGFB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia |
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| BabyScreen+ newborn screening v0.0 | TFR2 |
Zornitza Stark gene: TFR2 was added gene: TFR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TFR2 were set to Hemochromatosis type 3 |
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| 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 | SYT14 |
Zornitza Stark gene: SYT14 was added gene: SYT14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYT14 were set to Spinocerebellar ataxia, autosomal recessive 11 |
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| BabyScreen+ newborn screening v0.0 | ST14 |
Zornitza Stark gene: ST14 was added gene: ST14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST14 were set to Ichthyosis hypotrichosis syndrome |
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| BabyScreen+ newborn screening v0.0 | SP7 |
Zornitza Stark gene: SP7 was added gene: SP7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII |
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| BabyScreen+ newborn screening v0.0 | SOX18 |
Zornitza Stark gene: SOX18 was added gene: SOX18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SOX18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome |
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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 | SNAP29 |
Zornitza Stark gene: SNAP29 was added gene: SNAP29 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
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| BabyScreen+ newborn screening v0.0 | SMAD9 |
Zornitza Stark gene: SMAD9 was added gene: SMAD9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD9 were set to Pulmonary arterial hypertension |
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| BabyScreen+ newborn screening v0.0 | SMAD1 |
Zornitza Stark gene: SMAD1 was added gene: SMAD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension |
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| BabyScreen+ newborn screening v0.0 | SLC9A3R1 |
Zornitza Stark gene: SLC9A3R1 was added gene: SLC9A3R1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2 |
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| BabyScreen+ newborn screening v0.0 | SLC4A4 |
Zornitza Stark gene: SLC4A4 was added gene: SLC4A4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities |
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| BabyScreen+ newborn screening v0.0 | SLC41A1 |
Zornitza Stark gene: SLC41A1 was added gene: SLC41A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC41A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC41A1 were set to 23661805 Phenotypes for gene: SLC41A1 were set to Nephronophthisis-like nephropathy 2, MIM# 619468 |
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| BabyScreen+ newborn screening v0.0 | SIX5 |
Zornitza Stark gene: SIX5 was added gene: SIX5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome |
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| BabyScreen+ newborn screening v0.0 | SIX2 |
Zornitza Stark gene: SIX2 was added gene: SIX2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX2 were set to Renal hypodysplasia |
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| BabyScreen+ newborn screening v0.0 | SFTPA2 |
Zornitza Stark gene: SFTPA2 was added gene: SFTPA2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic |
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| BabyScreen+ newborn screening v0.0 | SERPINB6 |
Zornitza Stark gene: SERPINB6 was added gene: SERPINB6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SERPINB6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINB6 were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | SCN4A |
Zornitza Stark Source Expert Review Red was added to SCN4A. Source BabySeq Category A gene was added to SCN4A. Source BabySeq Category C gene was added to SCN4A. Mode of inheritance for gene SCN4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis, type 2 for gene: SCN4A Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| BabyScreen+ newborn screening v0.0 | SC5D |
Zornitza Stark gene: SC5D was added gene: SC5D was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SC5D were set to Lathosterolosis |
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| BabyScreen+ newborn screening v0.0 | RFX6 |
Zornitza Stark gene: RFX6 was added gene: RFX6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFX6 were set to Diabetes, neonatal, with intestinal atresia |
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| BabyScreen+ newborn screening v0.0 | PRICKLE1 |
Zornitza Stark gene: PRICKLE1 was added gene: PRICKLE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B |
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| BabyScreen+ newborn screening v0.0 | PODXL |
Zornitza Stark gene: PODXL was added gene: PODXL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PODXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PODXL were set to Focal and segmental glomerulosclerosis |
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| BabyScreen+ newborn screening v0.0 | PNPLA1 |
Zornitza Stark gene: PNPLA1 was added gene: PNPLA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to Ichthyosis, autosomal recessive congenital |
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| BabyScreen+ newborn screening v0.0 | PHOX2A |
Zornitza Stark gene: PHOX2A was added gene: PHOX2A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital |
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| BabyScreen+ newborn screening v0.0 | PEX11B |
Zornitza Stark gene: PEX11B was added gene: PEX11B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder |
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| BabyScreen+ newborn screening v0.0 | PDSS1 |
Zornitza Stark Source Expert Review Red was added to PDSS1. Source BabySeq Category C gene was added to PDSS1. Added phenotypes Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal for gene: PDSS1 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| BabyScreen+ newborn screening v0.0 | PDE11A |
Zornitza Stark gene: PDE11A was added gene: PDE11A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PDE11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDE11A were set to Adrenocortical hyperplasia |
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| BabyScreen+ newborn screening v0.0 | OTOG |
Zornitza Stark gene: OTOG was added gene: OTOG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: OTOG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOG were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | NR1H4 |
Zornitza Stark gene: NR1H4 was added gene: NR1H4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NR1H4 were set to Cholestasis, infantile |
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| BabyScreen+ newborn screening v0.0 | NOP10 |
Zornitza Stark gene: NOP10 was added gene: NOP10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NOP10 were set to Dyskeratosis congenita |
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| BabyScreen+ newborn screening v0.0 | NME8 |
Zornitza Stark gene: NME8 was added gene: NME8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NME8 were set to Ciliary dyskinesia, primary |
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| BabyScreen+ newborn screening v0.0 | NKX3-2 |
Zornitza Stark gene: NKX3-2 was added gene: NKX3-2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia |
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| BabyScreen+ newborn screening v0.0 | NHP2 |
Zornitza Stark gene: NHP2 was added gene: NHP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHP2 were set to Dyskeratosis congenita |
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| BabyScreen+ newborn screening v0.0 | NEDD4L |
Zornitza Stark gene: NEDD4L was added gene: NEDD4L was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEDD4L were set to Epilepsy, photosensitive generalised |
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| BabyScreen+ newborn screening v0.0 | MYO1E |
Zornitza Stark gene: MYO1E was added gene: MYO1E was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MYO1E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO1E were set to Focal segmental glomerulosclerosis |
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| BabyScreen+ newborn screening v0.0 | MUC5B |
Zornitza Stark gene: MUC5B was added gene: MUC5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MUC5B were set to Pulmonary fibrosis, idiopathic |
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| BabyScreen+ newborn screening v0.0 | MTO1 |
Zornitza Stark gene: MTO1 was added gene: MTO1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTO1 were set to Hypertrophic cardiomyopathy & lactic acidosis |
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| BabyScreen+ newborn screening v0.0 | MSRB3 |
Zornitza Stark gene: MSRB3 was added gene: MSRB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MSRB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MSRB3 were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | MOGS |
Zornitza Stark gene: MOGS was added gene: MOGS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOGS were set to Glucosidase 1 deficiency |
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| BabyScreen+ newborn screening v0.0 | MESP2 |
Zornitza Stark gene: MESP2 was added gene: MESP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis, autosomal recessive 2 |
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| BabyScreen+ newborn screening v0.0 | MED13L |
Zornitza Stark gene: MED13L was added gene: MED13L was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MED13L were set to Transposition of great arteries |
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| BabyScreen+ newborn screening v0.0 | LYZ |
Zornitza Stark gene: LYZ was added gene: LYZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LYZ were set to Amyloidosis, systemic |
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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 | KRT8 |
Zornitza Stark gene: KRT8 was added gene: KRT8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KRT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic |
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| BabyScreen+ newborn screening v0.0 | KRT18 |
Zornitza Stark gene: KRT18 was added gene: KRT18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KRT18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT18 were set to Cirrhosis, cryptogenic |
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| BabyScreen+ newborn screening v0.0 | KIF22 |
Zornitza Stark gene: KIF22 was added gene: KIF22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 |
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| BabyScreen+ newborn screening v0.0 | KCNJ18 |
Zornitza Stark gene: KCNJ18 was added gene: KCNJ18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ18 were set to Hypokalaemic periodic paralysis |
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| BabyScreen+ newborn screening v0.0 | ITGA6 |
Zornitza Stark gene: ITGA6 was added gene: ITGA6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis |
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| BabyScreen+ newborn screening v0.0 | IGBP1 |
Zornitza Stark gene: IGBP1 was added gene: IGBP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGBP1 were set to Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia |
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| BabyScreen+ newborn screening v0.0 | IFT43 |
Zornitza Stark gene: IFT43 was added gene: IFT43 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia |
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| BabyScreen+ newborn screening v0.0 | IFT122 |
Zornitza Stark gene: IFT122 was added gene: IFT122 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia |
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| BabyScreen+ newborn screening v0.0 | HYDIN |
Zornitza Stark gene: HYDIN was added gene: HYDIN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYDIN were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | HPD |
Zornitza Stark Source Expert Review Red was added to HPD. Source BabySeq Category C gene was added to HPD. Mode of inheritance for gene HPD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Tyrosinemia, type III for gene: HPD Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| BabyScreen+ newborn screening v0.0 | HOXA1 |
Zornitza Stark gene: HOXA1 was added gene: HOXA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene 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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| BabyScreen+ newborn screening v0.0 | HIBCH |
Zornitza Stark gene: HIBCH was added gene: HIBCH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HIBCH were set to Neurodegeneration, progressive infantile |
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| BabyScreen+ newborn screening v0.0 | HFE2 |
Zornitza Stark gene: HFE2 was added gene: HFE2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HFE2 were set to Haemochromatosis |
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| BabyScreen+ newborn screening v0.0 | HFE |
Zornitza Stark gene: HFE was added gene: HFE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HFE were set to Hemochromatosis |
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| BabyScreen+ newborn screening v0.0 | HESX1 |
Zornitza Stark Source Expert Review Red was added to HESX1. Source BabySeq Category C gene was added to HESX1. Mode of inheritance for gene HESX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Pituitary hypoplasia for gene: HESX1 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| BabyScreen+ newborn screening v0.0 | HAMP |
Zornitza Stark gene: HAMP was added gene: HAMP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HAMP were set to Haemochromatosis |
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| BabyScreen+ newborn screening v0.0 | GPC6 |
Zornitza Stark gene: GPC6 was added gene: GPC6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPC6 were set to Omodysplasia |
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| BabyScreen+ newborn screening v0.0 | GPC4 |
Zornitza Stark gene: GPC4 was added gene: GPC4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC4 were set to Simpson-Golabi-Behmel syndrome |
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| BabyScreen+ newborn screening v0.0 | GLUL |
Zornitza Stark gene: GLUL was added gene: GLUL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLUL were set to Congenital brain dysgenesis due to glutamine synthetase deficiency |
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| BabyScreen+ newborn screening v0.0 | GLRB |
Zornitza Stark Source Expert Review Red was added to GLRB. Source BabySeq Category C gene was added to GLRB. Added phenotypes Hyperekplexia 2, autosomal recessive for gene: GLRB Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| BabyScreen+ newborn screening v0.0 | GLE1 |
Zornitza Stark gene: GLE1 was added gene: GLE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLE1 were set to Lethal arthrogryposis with anterior horn cell disease |
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| BabyScreen+ newborn screening v0.0 | GFER |
Zornitza Stark gene: GFER was added gene: GFER was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
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| BabyScreen+ newborn screening v0.0 | FLG |
Zornitza Stark gene: FLG was added gene: FLG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLG were set to Ichthyosis vulgaris |
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| BabyScreen+ newborn screening v0.0 | FAM111B |
Zornitza Stark gene: FAM111B was added gene: FAM111B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FAM111B were set to Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis |
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| BabyScreen+ newborn screening v0.0 | EPB42 |
Zornitza Stark gene: EPB42 was added gene: EPB42 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: EPB42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EPB42 were set to Spherocytosis |
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| BabyScreen+ newborn screening v0.0 | EFEMP2 |
Zornitza Stark gene: EFEMP2 was added gene: EFEMP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB |
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| BabyScreen+ newborn screening v0.0 | DTHD1 |
Zornitza Stark gene: DTHD1 was added gene: DTHD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DTHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DTHD1 were set to Leber congenital amaurosis with myopathy |
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| BabyScreen+ newborn screening v0.0 | DNAL1 |
Zornitza Stark gene: DNAL1 was added gene: DNAL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAL1 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAJC5 |
Zornitza Stark gene: DNAJC5 was added gene: DNAJC5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNAJC5 were set to Neuronal ceroid lipofuscinosis, adult-onset |
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| BabyScreen+ newborn screening v0.0 | DNAI2 |
Zornitza Stark gene: DNAI2 was added gene: DNAI2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI2 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAAF5 |
Zornitza Stark gene: DNAAF5 was added gene: DNAAF5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAAF3 |
Zornitza Stark gene: DNAAF3 was added gene: DNAAF3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF3 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAAF2 |
Zornitza Stark gene: DNAAF2 was added gene: DNAAF2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF2 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DHCR24 |
Zornitza Stark gene: DHCR24 was added gene: DHCR24 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR24 were set to Desmosterolosis |
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| BabyScreen+ newborn screening v0.0 | DDR2 |
Zornitza Stark gene: DDR2 was added gene: DDR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type |
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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 | CYP7B1 |
Zornitza Stark gene: CYP7B1 was added gene: CYP7B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP7B1 were set to Cholestasis, severe |
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| BabyScreen+ newborn screening v0.0 | CSTA |
Zornitza Stark gene: CSTA was added gene: CSTA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTA were set to Exfoliative ichthyosis |
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| BabyScreen+ newborn screening v0.0 | CSF2RB |
Zornitza Stark gene: CSF2RB was added gene: CSF2RB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSF2RB were set to Pulmonary alveolar proteinosis |
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| BabyScreen+ newborn screening v0.0 | COX4I2 |
Zornitza Stark gene: COX4I2 was added gene: COX4I2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene 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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| BabyScreen+ newborn screening v0.0 | CLDN1 |
Zornitza Stark gene: CLDN1 was added gene: CLDN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis |
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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 | CD2AP |
Zornitza Stark gene: CD2AP was added gene: CD2AP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CD2AP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD2AP were set to Glomerulosclerosis, focal segmental, 3 |
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| BabyScreen+ newborn screening v0.0 | CCDC103 |
Zornitza Stark gene: CCDC103 was added gene: CCDC103 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC103 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | CACNA1D |
Zornitza Stark Source Expert Review Red was added to CACNA1D. Source BabySeq Category C gene was added to CACNA1D. Mode of inheritance for gene CACNA1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Sinoatrial node dysfunction and deafness for gene: CACNA1D Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| BabyScreen+ newborn screening v0.0 | BPGM |
Zornitza Stark gene: BPGM was added gene: BPGM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: BPGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BPGM were set to Erythrocytosis due to bisphosphoglycerate mutase deficiency |
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| BabyScreen+ newborn screening v0.0 | ATP6AP2 |
Zornitza Stark gene: ATP6AP2 was added gene: ATP6AP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP6AP2 were set to X-linked recessive intellectual deficit - epilepsy |
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| BabyScreen+ newborn screening v0.0 | ATN1 |
Zornitza Stark gene: ATN1 was added gene: ATN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATN1 were set to Dentatorubral-pallidoluysian atrophy 1 |
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| BabyScreen+ newborn screening v0.0 | ATIC |
Zornitza Stark gene: ATIC was added gene: ATIC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATIC were set to AICA-Ribosiduria |
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| BabyScreen+ newborn screening v0.0 | ARSE |
Zornitza Stark gene: ARSE was added gene: ARSE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive |
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| BabyScreen+ newborn screening v0.0 | ARID1A |
Zornitza Stark gene: ARID1A was added gene: ARID1A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ARID1A were set to Coffin-Siris syndrome |
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| BabyScreen+ newborn screening v0.0 | ARHGAP31 |
Zornitza Stark gene: ARHGAP31 was added gene: ARHGAP31 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ARHGAP31 were set to Syndromic cutis aplasia & limb anomalies |
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| BabyScreen+ newborn screening v0.0 | AP1S3 |
Zornitza Stark gene: AP1S3 was added gene: AP1S3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AP1S3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AP1S3 were set to Pustular psoriasis |
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| BabyScreen+ newborn screening v0.0 | ANO5 |
Zornitza Stark gene: ANO5 was added gene: ANO5 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, type 2L; Gnathodiaphyseal dysplasia |
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| BabyScreen+ newborn screening v0.0 | AMPD1 |
Zornitza Stark gene: AMPD1 was added gene: AMPD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMPD1 were set to Adenosine monophosphate deaminase deficiency |
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| BabyScreen+ newborn screening v0.0 | AMACR |
Zornitza Stark gene: AMACR was added gene: AMACR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4 |
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| BabyScreen+ newborn screening v0.0 | AKT2 |
Zornitza Stark gene: AKT2 was added gene: AKT2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene 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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| BabyScreen+ newborn screening v0.0 | AGTR1 |
Zornitza Stark gene: AGTR1 was added gene: AGTR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis |
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| BabyScreen+ newborn screening v0.0 | AGT |
Zornitza Stark gene: AGT was added gene: AGT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGT were set to Renal tubular dysgenesis |
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| BabyScreen+ newborn screening v0.0 | AGPS |
Zornitza Stark gene: AGPS was added gene: AGPS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3 |
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| BabyScreen+ newborn screening v0.0 | ABCC9 |
Zornitza Stark gene: ABCC9 was added gene: ABCC9 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ABCC9 were set to Atrial fibrillation, familial; Cardiomyopathy, dilated; Hypertrichotic osteochondrodysplasia |
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| BabyScreen+ newborn screening v0.0 | ABCB7 |
Zornitza Stark gene: ABCB7 was added gene: ABCB7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCB7 were set to Sideroblastic anaemia and ataxia |
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| BabyScreen+ newborn screening v0.0 | WT1 |
Zornitza Stark gene: WT1 was added gene: WT1 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WT1 were set to Denys-Drash syndrome; Wilms tumor, type 1; Frasier syndrome |
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| BabyScreen+ newborn screening v0.0 | TINF2 |
Zornitza Stark gene: TINF2 was added gene: TINF2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TINF2 were set to Dyskeratosis congenita |
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| BabyScreen+ newborn screening v0.0 | TERT |
Zornitza Stark gene: TERT was added gene: TERT was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TERT were set to Dyskeratosis congenita |
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| BabyScreen+ newborn screening v0.0 | TERC |
Zornitza Stark gene: TERC was added gene: TERC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TERC were set to Dyskeratosis congenita |
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| BabyScreen+ newborn screening v0.0 | PKP2 |
Zornitza Stark gene: PKP2 was added gene: PKP2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9 |
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| BabyScreen+ newborn screening v0.0 | JUP |
Zornitza Stark gene: JUP was added gene: JUP was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12; Naxos disease |
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| BabyScreen+ newborn screening v0.0 | GCH1 |
Zornitza Stark Source Expert Review Amber was added to GCH1. Source BabySeq Category B gene was added to GCH1. Mode of inheritance for gene GCH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dystonia, dopa-responsive for gene: GCH1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | DSP |
Zornitza Stark Source BabySeq Category B gene was added to DSP. Source Expert Review Amber was added to DSP. Source BabySeq Category A gene was added to DSP. Mode of inheritance for gene DSP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Epidermolysis bullosa, lethal acantholytic; Arrhythmogenic right ventricular dysplasia/cardiomyopathy for gene: DSP Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | DKC1 |
Zornitza Stark Source Expert Review Amber was added to DKC1. Source BabySeq Category B gene was added to DKC1. Added phenotypes Dyskeratosis congenita for gene: DKC1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | BMPR2 |
Zornitza Stark gene: BMPR2 was added gene: BMPR2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary |
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| BabyScreen+ newborn screening v0.0 | WRAP53 |
Zornitza Stark gene: WRAP53 was added gene: WRAP53 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRAP53 were set to 32303682; 21205863; 29514627 Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 |
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| BabyScreen+ newborn screening v0.0 | WHRN |
Zornitza Stark gene: WHRN was added gene: WHRN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WHRN were set to 15841483; 28254438; 17171570; 12833159; 26338283; 20502675; 21738389; 27117407; 29270100; 22147658 Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084 |
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| BabyScreen+ newborn screening v0.0 | WDR62 |
Zornitza Stark gene: WDR62 was added gene: WDR62 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
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| BabyScreen+ newborn screening v0.0 | VPS45 |
Zornitza Stark gene: VPS45 was added gene: VPS45 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 |
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| BabyScreen+ newborn screening v0.0 | VPS33B |
Zornitza Stark gene: VPS33B was added gene: VPS33B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to Arthrogryposis renal dysfunction cholestasis syndrome |
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| BabyScreen+ newborn screening v0.0 | VPS13A |
Zornitza Stark gene: VPS13A was added gene: VPS13A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13A were set to Choreoacanthocytosis |
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| BabyScreen+ newborn screening v0.0 | VLDLR |
Zornitza Stark gene: VLDLR was added gene: VLDLR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
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| BabyScreen+ newborn screening v0.0 | VIPAS39 |
Zornitza Stark gene: VIPAS39 was added gene: VIPAS39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction and cholestasis |
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| BabyScreen+ newborn screening v0.0 | VCP |
Zornitza Stark gene: VCP was added gene: VCP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset paget disease and frontotemporal dementia |
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| BabyScreen+ newborn screening v0.0 | UNC13D |
Zornitza Stark gene: UNC13D was added gene: UNC13D was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC13D were set to Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898 |
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| BabyScreen+ newborn screening v0.0 | TTR |
Zornitza Stark gene: TTR was added gene: TTR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related |
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| BabyScreen+ newborn screening v0.0 | TTC7A |
Zornitza Stark gene: TTC7A was added gene: TTC7A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC7A were set to Immunodeficiency, combined, with intestinal atresias, MIM#243150 |
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| BabyScreen+ newborn screening v0.0 | TTC21B |
Zornitza Stark gene: TTC21B was added gene: TTC21B was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341 Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Nephronophthisis 12, MIM# 613820 |
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| BabyScreen+ newborn screening v0.0 | TSR2 |
Zornitza Stark gene: TSR2 was added gene: TSR2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TSR2 were set to Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946 |
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| BabyScreen+ newborn screening v0.0 | TSEN54 |
Zornitza Stark gene: TSEN54 was added gene: TSEN54 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 4 |
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| BabyScreen+ newborn screening v0.0 | TSC2 |
Zornitza Stark gene: TSC2 was added gene: TSC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC2 were set to Tuberous sclerosis 2, MIM#613254 |
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| BabyScreen+ newborn screening v0.0 | TSC1 |
Zornitza Stark gene: TSC1 was added gene: TSC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC1 were set to Tuberous sclerosis 1, MIM#191100 |
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| BabyScreen+ newborn screening v0.0 | TRMU |
Zornitza Stark gene: TRMU was added gene: TRMU was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMU were set to Liver failure, transient infantile |
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| BabyScreen+ newborn screening v0.0 | TRIOBP |
Zornitza Stark gene: TRIOBP was added gene: TRIOBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRIOBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIOBP were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | TRAPPC2 |
Zornitza Stark gene: TRAPPC2 was added gene: TRAPPC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda |
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| BabyScreen+ newborn screening v0.0 | TPP1 |
Zornitza Stark gene: TPP1 was added gene: TPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Neuronal ceroid lipofuscinosis |
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| BabyScreen+ newborn screening v0.0 | TPO |
Zornitza Stark gene: TPO was added gene: TPO was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A |
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| BabyScreen+ newborn screening v0.0 | TPM2 |
Zornitza Stark gene: TPM2 was added gene: TPM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM2 were set to Nemaline myopathy; Arthrogryposis multiplex congenita, distal |
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| BabyScreen+ newborn screening v0.0 | TNNT3 |
Zornitza Stark gene: TNNT3 was added gene: TNNT3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNT3 were set to Arthyrgryposis, distal |
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| BabyScreen+ newborn screening v0.0 | TNNI2 |
Zornitza Stark gene: TNNI2 was added gene: TNNI2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNI2 were set to Distal arthrogryposis syndrome 2b |
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| BabyScreen+ newborn screening v0.0 | TNFSF11 |
Zornitza Stark gene: TNFSF11 was added gene: TNFSF11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2 |
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| BabyScreen+ newborn screening v0.0 | TNFRSF11A |
Zornitza Stark gene: TNFRSF11A was added gene: TNFRSF11A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301 |
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| BabyScreen+ newborn screening v0.0 | TMPRSS3 |
Zornitza Stark gene: TMPRSS3 was added gene: TMPRSS3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMPRSS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMPRSS3 were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | TMIE |
Zornitza Stark gene: TMIE was added gene: TMIE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMIE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMIE were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | TMEM43 |
Zornitza Stark gene: TMEM43 was added gene: TMEM43 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5 |
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| BabyScreen+ newborn screening v0.0 | THRB |
Zornitza Stark gene: THRB was added gene: THRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THRB were set to Thyroid hormone resistance |
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| BabyScreen+ newborn screening v0.0 | TH |
Zornitza Stark gene: TH was added gene: TH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TH were set to Tyrosine hydroxylase deficiency, MIM#605407 |
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| BabyScreen+ newborn screening v0.0 | TGM1 |
Zornitza Stark gene: TGM1 was added gene: TGM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | TG |
Zornitza Stark gene: TG was added gene: TG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3 |
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| BabyScreen+ newborn screening v0.0 | TCIRG1 |
Zornitza Stark gene: TCIRG1 was added gene: TCIRG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant |
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| BabyScreen+ newborn screening v0.0 | TAT |
Zornitza Stark gene: TAT was added gene: TAT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAT were set to Tyrosinemia, type II, MIM#276600 |
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| BabyScreen+ newborn screening v0.0 | STXBP2 |
Zornitza Stark gene: STXBP2 was added gene: STXBP2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STXBP2 were set to Haemophagocytic lymphohistiocytosis, MIM#613101 |
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| BabyScreen+ newborn screening v0.0 | STX11 |
Zornitza Stark gene: STX11 was added gene: STX11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STX11 were set to Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 |
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| BabyScreen+ newborn screening v0.0 | STS |
Zornitza Stark gene: STS was added gene: STS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: STS were set to Ichthyosis, X-linked |
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| BabyScreen+ newborn screening v0.0 | STRC |
Zornitza Stark gene: STRC was added gene: STRC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRC were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | STAR |
Zornitza Stark gene: STAR was added gene: STAR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAR were set to Congenital lipoid adrenal hyperplasia, MIM#201710 |
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| BabyScreen+ newborn screening v0.0 | SPTB |
Zornitza Stark gene: SPTB was added gene: SPTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPTB were set to Spherocytosis |
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| BabyScreen+ newborn screening v0.0 | SPTA1 |
Zornitza Stark gene: SPTA1 was added gene: SPTA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPTA1 were set to Elliptocytosis |
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| BabyScreen+ newborn screening v0.0 | SP110 |
Zornitza Stark gene: SP110 was added gene: SP110 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency |
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| BabyScreen+ newborn screening v0.0 | SOX9 |
Zornitza Stark gene: SOX9 was added gene: SOX9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOX9 were set to Campomelic dysplasia |
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| BabyScreen+ newborn screening v0.0 | SMARCAL1 |
Zornitza Stark gene: SMARCAL1 was added gene: SMARCAL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia |
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| BabyScreen+ newborn screening v0.0 | SMAD4 |
Zornitza Stark gene: SMAD4 was added gene: SMAD4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD4 were set to Juvenile polyposis syndrome |
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| BabyScreen+ newborn screening v0.0 | SLCO2A1 |
Zornitza Stark gene: SLCO2A1 was added gene: SLCO2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLCO2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLCO2A1 were set to 22331663; 27134495; 33852188; 23509104 Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100 |
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| BabyScreen+ newborn screening v0.0 | SLC7A7 |
Zornitza Stark gene: SLC7A7 was added gene: SLC7A7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance |
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| BabyScreen+ newborn screening v0.0 | SLC5A5 |
Zornitza Stark gene: SLC5A5 was added gene: SLC5A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1 |
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| BabyScreen+ newborn screening v0.0 | SLC4A1 |
Zornitza Stark gene: SLC4A1 was added gene: SLC4A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC4A1 were set to Spherocytosis |
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| BabyScreen+ newborn screening v0.0 | SLC35D1 |
Zornitza Stark gene: SLC35D1 was added gene: SLC35D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia |
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| BabyScreen+ newborn screening v0.0 | SLC34A2 |
Zornitza Stark gene: SLC34A2 was added gene: SLC34A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis |
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| BabyScreen+ newborn screening v0.0 | SLC2A10 |
Zornitza Stark gene: SLC2A10 was added gene: SLC2A10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome |
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| BabyScreen+ newborn screening v0.0 | SLC27A4 |
Zornitza Stark gene: SLC27A4 was added gene: SLC27A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome |
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| BabyScreen+ newborn screening v0.0 | SLC26A2 |
Zornitza Stark gene: SLC26A2 was added gene: SLC26A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A2 were set to Achondrogenesis 1B |
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| BabyScreen+ newborn screening v0.0 | SLC25A4 |
Zornitza Stark gene: SLC25A4 was added gene: SLC25A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC25A4 were set to Progressive external ophthalmoplegia |
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| BabyScreen+ newborn screening v0.0 | SLC25A38 |
Zornitza Stark gene: SLC25A38 was added gene: SLC25A38 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | SLC19A3 |
Zornitza Stark gene: SLC19A3 was added gene: SLC19A3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to Basal ganglia disease, biotin-responsive, MIM#607483 |
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| BabyScreen+ newborn screening v0.0 | SLC19A2 |
Zornitza Stark gene: SLC19A2 was added gene: SLC19A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome |
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| BabyScreen+ newborn screening v0.0 | SLC17A5 |
Zornitza Stark gene: SLC17A5 was added gene: SLC17A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile |
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| BabyScreen+ newborn screening v0.0 | SLC12A6 |
Zornitza Stark gene: SLC12A6 was added gene: SLC12A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy |
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| BabyScreen+ newborn screening v0.0 | SIX3 |
Zornitza Stark gene: SIX3 was added gene: SIX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX3 were set to Holoprosencephaly-2 |
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| BabyScreen+ newborn screening v0.0 | SIX1 |
Zornitza Stark gene: SIX1 was added gene: SIX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX1 were set to Branchiootorenal syndrome |
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| BabyScreen+ newborn screening v0.0 | SIL1 |
Zornitza Stark gene: SIL1 was added gene: SIL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome |
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| BabyScreen+ newborn screening v0.0 | SI |
Zornitza Stark gene: SI was added gene: SI was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, MIM# 222900 |
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| BabyScreen+ newborn screening v0.0 | SGSH |
Zornitza Stark gene: SGSH was added gene: SGSH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A) |
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| BabyScreen+ newborn screening v0.0 | SGCD |
Zornitza Stark gene: SGCD was added gene: SGCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 |
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| BabyScreen+ newborn screening v0.0 | SERPINA1 |
Zornitza Stark gene: SERPINA1 was added gene: SERPINA1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINA1 were set to Emphysema due to AAT deficiency, OMIM #107400; Antitrypsin alpha 1 deficiency |
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| BabyScreen+ newborn screening v0.0 | SCN5A |
Zornitza Stark gene: SCN5A was added gene: SCN5A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN5A were set to Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Long QT syndrome 3 (MIM#603830); Heart block, progressive, type IA, MIM# 113900 |
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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 | RYR2 |
Zornitza Stark gene: RYR2 was added gene: RYR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2; Ventricular tachycardia, catecholaminergic polymorphic |
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| BabyScreen+ newborn screening v0.0 | RUNX2 |
Zornitza Stark gene: RUNX2 was added gene: RUNX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RUNX2 were set to Cleidocranial dysostosis |
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| BabyScreen+ newborn screening v0.0 | RSPH9 |
Zornitza Stark gene: RSPH9 was added gene: RSPH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary |
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| BabyScreen+ newborn screening v0.0 | RSPH4A |
Zornitza Stark gene: RSPH4A was added gene: RSPH4A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary |
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| BabyScreen+ newborn screening v0.0 | RS1 |
Zornitza Stark gene: RS1 was added gene: RS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RS1 were set to Retinoschisis, X linked |
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| BabyScreen+ newborn screening v0.0 | RPS28 |
Zornitza Stark gene: RPS28 was added gene: RPS28 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS28 were set to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164 |
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| BabyScreen+ newborn screening v0.0 | RMRP |
Zornitza Stark gene: RMRP was added gene: RMRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia |
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| BabyScreen+ newborn screening v0.0 | RET |
Zornitza Stark gene: RET was added gene: RET was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB; Multiple endocrine neoplasia IIA |
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| BabyScreen+ newborn screening v0.0 | REN |
Zornitza Stark gene: REN was added gene: REN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: REN were set to Renal tubular dysgenesis |
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| BabyScreen+ newborn screening v0.0 | RDX |
Zornitza Stark gene: RDX was added gene: RDX was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: RDX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RDX were set to 19215054; 22567349; 15314067; 26226137; 17226784 Phenotypes for gene: RDX were set to Deafness, autosomal recessive 24, MIM# 611022 |
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| BabyScreen+ newborn screening v0.0 | PTPRC |
Zornitza Stark gene: PTPRC was added gene: PTPRC was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTPRC were set to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971 |
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| BabyScreen+ newborn screening v0.0 | PTH1R |
Zornitza Stark gene: PTH1R was added gene: PTH1R was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PTH1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia |
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| BabyScreen+ newborn screening v0.0 | PTF1A |
Zornitza Stark gene: PTF1A was added gene: PTF1A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, MIM# 609069; Pancreatic agenesis 2, MIM# 615935 |
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| BabyScreen+ newborn screening v0.0 | PRF1 |
Zornitza Stark gene: PRF1 was added gene: PRF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRF1 were set to Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 |
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| BabyScreen+ newborn screening v0.0 | PPT1 |
Zornitza Stark gene: PPT1 was added gene: PPT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPT1 were set to Neuronal ceroid lipofuscinosis |
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| BabyScreen+ newborn screening v0.0 | PORCN |
Zornitza Stark gene: PORCN was added gene: PORCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PORCN were set to Focal dermal hypoplasia |
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| BabyScreen+ newborn screening v0.0 | POR |
Zornitza Stark gene: POR was added gene: POR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POR were set to Disordered steroidogenesis with and without Antley-Bixler syndrome, MIM#201750 |
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| BabyScreen+ newborn screening v0.0 | PNKD |
Zornitza Stark gene: PNKD was added gene: PNKD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PNKD were set to Paroxysmal nonkinesiogenic dyskinesia |
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| BabyScreen+ newborn screening v0.0 | PLEC |
Zornitza Stark gene: PLEC was added gene: PLEC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLEC were set to Muscular dystrophy; Epidermolysis bullosa simplex |
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| BabyScreen+ newborn screening 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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| BabyScreen+ newborn screening v0.0 | PIEZO2 |
Zornitza Stark gene: PIEZO2 was added gene: PIEZO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 5 |
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| BabyScreen+ newborn screening v0.0 | PEX7 |
Zornitza Stark gene: PEX7 was added gene: PEX7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Rhizomelic chondrodysplasia punctata; Refsum disease |
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| BabyScreen+ newborn screening v0.0 | PDX1 |
Zornitza Stark gene: PDX1 was added gene: PDX1 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDX1 were set to Pancreatic agenesis, MIM# # 260370 |
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| BabyScreen+ newborn screening v0.0 | PDE4D |
Zornitza Stark gene: PDE4D was added gene: PDE4D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance |
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| BabyScreen+ newborn screening v0.0 | PAX8 |
Zornitza Stark gene: PAX8 was added gene: PAX8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX8 were set to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
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| BabyScreen+ newborn screening v0.0 | OTOGL |
Zornitza Stark gene: OTOGL was added gene: OTOGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOGL were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | OTOF |
Zornitza Stark gene: OTOF was added gene: OTOF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOF were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | OTOA |
Zornitza Stark gene: OTOA was added gene: OTOA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OTOA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOA were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | OSTM1 |
Zornitza Stark gene: OSTM1 was added gene: OSTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OSTM1 were set to Osteopetrosis |
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| BabyScreen+ newborn screening v0.0 | OSMR |
Zornitza Stark gene: OSMR was added gene: OSMR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OSMR were set to Amyloidosis, primary cutaneous |
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| BabyScreen+ newborn screening v0.0 | NTRK1 |
Zornitza Stark gene: NTRK1 was added gene: NTRK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C 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 MIM#256800 |
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| BabyScreen+ newborn screening v0.0 | NR0B1 |
Zornitza Stark gene: NR0B1 was added gene: NR0B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NR0B1 were set to Congenital adrenal hypoplasia |
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| BabyScreen+ newborn screening v0.0 | NPHP4 |
Zornitza Stark gene: NPHP4 was added gene: NPHP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Nephronophthisis |
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| BabyScreen+ newborn screening v0.0 | NPHP3 |
Zornitza Stark gene: NPHP3 was added gene: NPHP3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Nephronophthisis |
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| BabyScreen+ newborn screening v0.0 | NPHP1 |
Zornitza Stark gene: NPHP1 was added gene: NPHP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to Nephronophthisis |
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| BabyScreen+ newborn screening v0.0 | NKX2-1 |
Zornitza Stark gene: NKX2-1 was added gene: NKX2-1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
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| BabyScreen+ newborn screening v0.0 | NIPAL4 |
Zornitza Stark gene: NIPAL4 was added gene: NIPAL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Ichthyosis, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | NHEJ1 |
Zornitza Stark gene: NHEJ1 was added gene: NHEJ1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291 |
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| BabyScreen+ newborn screening v0.0 | NF2 |
Zornitza Stark gene: NF2 was added gene: NF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF2 were set to Neurofibromatosis 2 |
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| BabyScreen+ newborn screening v0.0 | NF1 |
Zornitza Stark gene: NF1 was added gene: NF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 |
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| BabyScreen+ newborn screening v0.0 | NEU1 |
Zornitza Stark gene: NEU1 was added gene: NEU1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEU1 were set to Sialidosis |
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| BabyScreen+ newborn screening v0.0 | NEK8 |
Zornitza Stark gene: NEK8 was added gene: NEK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK8 were set to 26967905; 33131162; 26697755; 23274954; 26862157; 31633649; 23418306 Phenotypes for gene: NEK8 were set to MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, MIM# 615415 |
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| BabyScreen+ newborn screening v0.0 | NEK1 |
Zornitza Stark gene: NEK1 was added gene: NEK1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK1 were set to 22499340; 21211617; 28123176; 25492405 Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 |
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| BabyScreen+ newborn screening v0.0 | NCF4 |
Zornitza Stark gene: NCF4 was added gene: NCF4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NCF4 were set to Chronic granulomatous disease 3, autosomal recessive, MIM# 613960 |
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| BabyScreen+ newborn screening v0.0 | MYH9 |
Zornitza Stark gene: MYH9 was added gene: MYH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and progressive sensorineural deafness |
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| BabyScreen+ newborn screening v0.0 | MYH3 |
Zornitza Stark gene: MYH3 was added gene: MYH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH3 were set to Arthrogryposis, distal |
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| BabyScreen+ newborn screening v0.0 | MYBPC1 |
Zornitza Stark gene: MYBPC1 was added gene: MYBPC1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYBPC1 were set to 23873045; 20045868; 22610851; 26661508; 31025394; 31264822 Phenotypes for gene: MYBPC1 were set to Myopathy, congenital, with tremor MIM#618524; Lethal congenital contracture syndrome 4, MIM# 614915; Arthrogryposis, distal, type 1B 614335 |
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| BabyScreen+ newborn screening v0.0 | MUTYH |
Zornitza Stark gene: MUTYH was added gene: MUTYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUTYH were set to MUTYH-associated polyposis |
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| BabyScreen+ newborn screening v0.0 | MMAB |
Zornitza Stark gene: MMAB was added gene: MMAB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110 |
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| BabyScreen+ newborn screening v0.0 | MMAA |
Zornitza Stark gene: MMAA was added gene: MMAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, MIM#251100 |
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| BabyScreen+ newborn screening v0.0 | MFSD8 |
Zornitza Stark gene: MFSD8 was added gene: MFSD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal |
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| BabyScreen+ newborn screening v0.0 | MEN1 |
Zornitza Stark gene: MEN1 was added gene: MEN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia I |
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| BabyScreen+ newborn screening v0.0 | MCPH1 |
Zornitza Stark gene: MCPH1 was added gene: MCPH1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | MCOLN1 |
Zornitza Stark gene: MCOLN1 was added gene: MCOLN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV |
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| BabyScreen+ newborn screening v0.0 | MC2R |
Zornitza Stark gene: MC2R was added gene: MC2R was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200 |
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| BabyScreen+ newborn screening v0.0 | MBTPS2 |
Zornitza Stark gene: MBTPS2 was added gene: MBTPS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MBTPS2 were set to Ichthyosis follicularis, alopecia & photophobia |
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| BabyScreen+ newborn screening v0.0 | MARVELD2 |
Zornitza Stark gene: MARVELD2 was added gene: MARVELD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MARVELD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MARVELD2 were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | MAN2B1 |
Zornitza Stark gene: MAN2B1 was added gene: MAN2B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha |
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| BabyScreen+ newborn screening v0.0 | MAFB |
Zornitza Stark gene: MAFB was added gene: MAFB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome |
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| BabyScreen+ newborn screening v0.0 | LTBP4 |
Zornitza Stark gene: LTBP4 was added gene: LTBP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC |
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| BabyScreen+ newborn screening v0.0 | LRTOMT |
Zornitza Stark gene: LRTOMT was added gene: LRTOMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRTOMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRTOMT were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | LRRC6 |
Zornitza Stark gene: LRRC6 was added gene: LRRC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRRC6 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | LRP5 |
Zornitza Stark gene: LRP5 was added gene: LRP5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome |
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| BabyScreen+ newborn screening v0.0 | LOXHD1 |
Zornitza Stark gene: LOXHD1 was added gene: LOXHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | LIG4 |
Zornitza Stark gene: LIG4 was added gene: LIG4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation |
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| BabyScreen+ newborn screening v0.0 | LHFPL5 |
Zornitza Stark gene: LHFPL5 was added gene: LHFPL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LHFPL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LHFPL5 were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | LEPR |
Zornitza Stark gene: LEPR was added gene: LEPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency |
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| BabyScreen+ newborn screening v0.0 | LAMC2 |
Zornitza Stark gene: LAMC2 was added gene: LAMC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional |
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| BabyScreen+ newborn screening v0.0 | LAMB3 |
Zornitza Stark gene: LAMB3 was added gene: LAMB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional |
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| BabyScreen+ newborn screening v0.0 | LAMA3 |
Zornitza Stark gene: LAMA3 was added gene: LAMA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional |
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| BabyScreen+ newborn screening v0.0 | LAMA2 |
Zornitza Stark gene: LAMA2 was added gene: LAMA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient |
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| BabyScreen+ newborn screening v0.0 | KRT5 |
Zornitza Stark gene: KRT5 was added gene: KRT5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex |
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| BabyScreen+ newborn screening v0.0 | KRT14 |
Zornitza Stark gene: KRT14 was added gene: KRT14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex |
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| BabyScreen+ newborn screening v0.0 | KIF21A |
Zornitza Stark gene: KIF21A was added gene: KIF21A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital |
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| BabyScreen+ newborn screening v0.0 | KCTD7 |
Zornitza Stark gene: KCTD7 was added gene: KCTD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic |
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| BabyScreen+ newborn screening v0.0 | KCNJ2 |
Zornitza Stark gene: KCNJ2 was added gene: KCNJ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ2 were set to Andersen cardiodysrhythmic periodic paralysis |
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| BabyScreen+ newborn screening v0.0 | KARS |
Zornitza Stark gene: KARS was added gene: KARS was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 30737337; 30715177; 31116475 Phenotypes for gene: KARS were set to deafness with progressive leukodystrophy |
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| BabyScreen+ newborn screening v0.0 | JAK3 |
Zornitza Stark gene: JAK3 was added gene: JAK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, MIM#600802 |
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| BabyScreen+ newborn screening v0.0 | IYD |
Zornitza Stark gene: IYD was added gene: IYD was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IYD were set to 18765512; 30240412; 18434651 Phenotypes for gene: IYD were set to Thyroid dyshormonogenesis 4, MIM# 274800 |
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| BabyScreen+ newborn screening v0.0 | ITGB4 |
Zornitza Stark gene: ITGB4 was added gene: ITGB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia |
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| BabyScreen+ newborn screening v0.0 | ITGB2 |
Zornitza Stark gene: ITGB2 was added gene: ITGB2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, MIM# 116920 |
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| BabyScreen+ newborn screening v0.0 | ITGA3 |
Zornitza Stark gene: ITGA3 was added gene: ITGA3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital |
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| BabyScreen+ newborn screening v0.0 | INVS |
Zornitza Stark gene: INVS was added gene: INVS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INVS were set to Nephronophthisis 2 |
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| BabyScreen+ newborn screening v0.0 | ILDR1 |
Zornitza Stark gene: ILDR1 was added gene: ILDR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ILDR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ILDR1 were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | IL7R |
Zornitza Stark gene: IL7R was added gene: IL7R was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971 |
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| BabyScreen+ newborn screening v0.0 | IL10RB |
Zornitza Stark gene: IL10RB was added gene: IL10RB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567 |
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| BabyScreen+ newborn screening v0.0 | IDUA |
Zornitza Stark gene: IDUA was added gene: IDUA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, MIM#607014 |
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| BabyScreen+ newborn screening v0.0 | IDS |
Zornitza Stark gene: IDS was added gene: IDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IDS were set to Mucopolysaccharidosis II |
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| BabyScreen+ newborn screening v0.0 | HTRA1 |
Zornitza Stark gene: HTRA1 was added gene: HTRA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HTRA1 were set to CARASIL syndrome |
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| BabyScreen+ newborn screening v0.0 | HSD3B2 |
Zornitza Stark gene: HSD3B2 was added gene: HSD3B2 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810 |
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| BabyScreen+ newborn screening v0.0 | HPD |
Zornitza Stark gene: HPD was added gene: HPD was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to Hawkinsinuria , MIM#140350; Tyrosinaemia, type III 276710 |
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| BabyScreen+ newborn screening v0.0 | HGSNAT |
Zornitza Stark gene: HGSNAT was added gene: HGSNAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis IIIC |
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| BabyScreen+ newborn screening v0.0 | HGF |
Zornitza Stark gene: HGF was added gene: HGF was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HGF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGF were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | HESX1 |
Zornitza Stark gene: HESX1 was added gene: HESX1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to Septooptic dysplasia, MIM# 182230 |
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| BabyScreen+ newborn screening v0.0 | HAX1 |
Zornitza Stark gene: HAX1 was added gene: HAX1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 |
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| BabyScreen+ newborn screening v0.0 | HARS2 |
Zornitza Stark gene: HARS2 was added gene: HARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HARS2 were set to Perrault syndrome; autosomal recessive sensorineural hearing loss |
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| BabyScreen+ newborn screening v0.0 | GUSB |
Zornitza Stark gene: GUSB was added gene: GUSB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, MIM#253220 |
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| BabyScreen+ newborn screening v0.0 | GRXCR1 |
Zornitza Stark gene: GRXCR1 was added gene: GRXCR1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: GRXCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRXCR1 were set to 26445815; 20137778; 20137774; 26226137; 25802247; 26969326 Phenotypes for gene: GRXCR1 were set to Deafness, autosomal recessive 25, MIM# 613285 |
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| BabyScreen+ newborn screening v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome |
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| BabyScreen+ newborn screening v0.0 | GNS |
Zornitza Stark gene: GNS was added gene: GNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNS were set to Mucopolysaccharidosis IIId |
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| BabyScreen+ newborn screening v0.0 | GNPTG |
Zornitza Stark gene: GNPTG was added gene: GNPTG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma |
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| BabyScreen+ newborn screening v0.0 | GNPTAB |
Zornitza Stark gene: GNPTAB was added gene: GNPTAB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTAB were set to Mucolipidosis II |
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| BabyScreen+ newborn screening v0.0 | GNE |
Zornitza Stark gene: GNE was added gene: GNE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNE were set to Inclusion body myopathy |
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| BabyScreen+ newborn screening v0.0 | GLRA1 |
Zornitza Stark gene: GLRA1 was added gene: GLRA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400 |
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| BabyScreen+ newborn screening v0.0 | GLB1 |
Zornitza Stark gene: GLB1 was added gene: GLB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to Gangliosidosis GM1 |
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| BabyScreen+ newborn screening v0.0 | GJA1 |
Zornitza Stark gene: GJA1 was added gene: GJA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia |
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| BabyScreen+ newborn screening v0.0 | GIF |
Zornitza Stark Source Expert list was added to GIF. Added phenotypes Intrinsic factor deficiency # 261000 for gene: GIF |
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| BabyScreen+ newborn screening v0.0 | GCH1 |
Zornitza Stark gene: GCH1 was added gene: GCH1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 |
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| BabyScreen+ newborn screening v0.0 | GATA3 |
Zornitza Stark gene: GATA3 was added gene: GATA3 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 |
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| BabyScreen+ newborn screening v0.0 | GALNS |
Zornitza Stark gene: GALNS was added gene: GALNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA |
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| BabyScreen+ newborn screening v0.0 | FUCA1 |
Zornitza Stark gene: FUCA1 was added gene: FUCA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUCA1 were set to Fucosidosis |
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| BabyScreen+ newborn screening v0.0 | FOXI1 |
Zornitza Stark gene: FOXI1 was added gene: FOXI1 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXI1 were set to sensorineural deafness and distal renal tubular acidosis |
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| BabyScreen+ newborn screening v0.0 | FOXF1 |
Zornitza Stark gene: FOXF1 was added gene: FOXF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green 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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| BabyScreen+ newborn screening v0.0 | FGFR3 |
Zornitza Stark gene: FGFR3 was added gene: FGFR3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR3 were set to Muenke syndrome; Thanatophoric dysplasia type 1; Crouzon syndrome with acanthosis nigricans; LADD syndrome; Hypochondroplasia; Achondroplasia; CATSHL syndrome |
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| BabyScreen+ newborn screening v0.0 | FGF3 |
Zornitza Stark gene: FGF3 was added gene: FGF3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGF3 were set to Deafness, congenital with inner ear agenesis, microtia, and microdontia |
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| BabyScreen+ newborn screening v0.0 | FERMT3 |
Zornitza Stark gene: FERMT3 was added gene: FERMT3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840 |
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| BabyScreen+ newborn screening v0.0 | FAM20C |
Zornitza Stark gene: FAM20C was added gene: FAM20C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM20C were set to Osteosclerotic bone dysplasia |
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| BabyScreen+ newborn screening v0.0 | FAH |
Zornitza Stark gene: FAH was added gene: FAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinaemia, type I, MIM#276700 |
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| BabyScreen+ newborn screening v0.0 | F5 |
Zornitza Stark gene: F5 was added gene: F5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: F5 were set to Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055 |
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| BabyScreen+ newborn screening v0.0 | ESPN |
Zornitza Stark gene: ESPN was added gene: ESPN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESPN were set to 26445815; 28281779; 10975527; 18973245; 15930085; 15286153 Phenotypes for gene: ESPN were set to Deafness, autosomal recessive 36, MIM# 609006 |
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| BabyScreen+ newborn screening v0.0 | EPM2A |
Zornitza Stark gene: EPM2A was added gene: EPM2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) |
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| BabyScreen+ newborn screening v0.0 | ENG |
Zornitza Stark gene: ENG was added gene: ENG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 |
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| BabyScreen+ newborn screening v0.0 | ELN |
Zornitza Stark gene: ELN was added gene: ELN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELN were set to Supravalvar aortic stenosis |
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| BabyScreen+ newborn screening v0.0 | EFTUD2 |
Zornitza Stark gene: EFTUD2 was added gene: EFTUD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly |
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| BabyScreen+ newborn screening v0.0 | EDARADD |
Zornitza Stark gene: EDARADD was added gene: EDARADD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic |
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| BabyScreen+ newborn screening v0.0 | EDAR |
Zornitza Stark gene: EDAR was added gene: EDAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDAR were set to Ectodermal dysplasia, hypohidrotic |
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| BabyScreen+ newborn screening v0.0 | EDA |
Zornitza Stark gene: EDA was added gene: EDA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic |
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| BabyScreen+ newborn screening v0.0 | DUOXA2 |
Zornitza Stark gene: DUOXA2 was added gene: DUOXA2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900 |
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| BabyScreen+ newborn screening v0.0 | DUOX2 |
Zornitza Stark gene: DUOX2 was added gene: DUOX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis |
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| BabyScreen+ newborn screening v0.0 | DSP |
Zornitza Stark gene: DSP was added gene: DSP was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis , MIM#615821 |
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| BabyScreen+ newborn screening v0.0 | DNAI1 |
Zornitza Stark gene: DNAI1 was added gene: DNAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAH5 |
Zornitza Stark gene: DNAH5 was added gene: DNAH5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH5 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAH11 |
Zornitza Stark gene: DNAH11 was added gene: DNAH11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAAF1 |
Zornitza Stark gene: DNAAF1 was added gene: DNAAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DLL3 |
Zornitza Stark gene: DLL3 was added gene: DLL3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis, autosomal recessive, 1 |
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| BabyScreen+ newborn screening v0.0 | DKC1 |
Zornitza Stark gene: DKC1 was added gene: DKC1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, MIM# 305000 |
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| BabyScreen+ newborn screening v0.0 | DGAT1 |
Zornitza Stark gene: DGAT1 was added gene: DGAT1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGAT1 were set to Diarrhea 7, protein-losing enteropathy type , MIM# 615863 |
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| BabyScreen+ newborn screening v0.0 | CYP4F22 |
Zornitza Stark gene: CYP4F22 was added gene: CYP4F22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | CYP27A1 |
Zornitza Stark gene: CYP27A1 was added gene: CYP27A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis |
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| BabyScreen+ newborn screening v0.0 | CYP21A2 |
Zornitza Stark gene: CYP21A2 was added gene: CYP21A2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910 |
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| BabyScreen+ newborn screening v0.0 | CYP11B1 |
Zornitza Stark gene: CYP11B1 was added gene: CYP11B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010 |
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| BabyScreen+ newborn screening v0.0 | CTSK |
Zornitza Stark gene: CTSK was added gene: CTSK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSK were set to Pycnodysostosis |
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| BabyScreen+ newborn screening v0.0 | CTSD |
Zornitza Stark gene: CTSD was added gene: CTSD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10 |
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| BabyScreen+ newborn screening v0.0 | CTNS |
Zornitza Stark gene: CTNS was added gene: CTNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTNS were set to Cystinosis |
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| BabyScreen+ newborn screening v0.0 | CSTB |
Zornitza Stark gene: CSTB was added gene: CSTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A |
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| BabyScreen+ newborn screening v0.0 | CSF3R |
Zornitza Stark gene: CSF3R was added gene: CSF3R was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CSF3R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CSF3R were set to Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014; Neutrophilia, hereditary , MIM# 162830 |
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| BabyScreen+ newborn screening v0.0 | CRTAP |
Zornitza Stark gene: CRTAP was added gene: CRTAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII |
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| BabyScreen+ newborn screening v0.0 | COL7A1 |
Zornitza Stark gene: COL7A1 was added gene: COL7A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL7A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica |
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| BabyScreen+ newborn screening v0.0 | COL1A2 |
Zornitza Stark gene: COL1A2 was added gene: COL1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type II |
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| BabyScreen+ newborn screening v0.0 | COL1A1 |
Zornitza Stark gene: COL1A1 was added gene: COL1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I |
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| BabyScreen+ newborn screening v0.0 | COL17A1 |
Zornitza Stark gene: COL17A1 was added gene: COL17A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type |
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| BabyScreen+ newborn screening v0.0 | COL11A2 |
Zornitza Stark gene: COL11A2 was added gene: COL11A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL11A2 were set to Otospondylomegaepiphyseal dysplasia |
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| BabyScreen+ newborn screening v0.0 | COCH |
Zornitza Stark gene: COCH was added gene: COCH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COCH were set to 21046548; 26256111; 9806553; 16151338; 28099493; 22931125; 18312449; 28116169; 28733840; 17561763; 18697796; 32562050; 29449721; 32939038; 22610276 Phenotypes for gene: COCH were set to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094 |
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| BabyScreen+ newborn screening v0.0 | CNGB3 |
Zornitza Stark gene: CNGB3 was added gene: CNGB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNGB3 were set to Achromatopsia-3 |
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| BabyScreen+ newborn screening v0.0 | CLN8 |
Zornitza Stark gene: CLN8 was added gene: CLN8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 |
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| BabyScreen+ newborn screening v0.0 | CLN6 |
Zornitza Stark gene: CLN6 was added gene: CLN6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6 |
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| BabyScreen+ newborn screening v0.0 | CLN5 |
Zornitza Stark gene: CLN5 was added gene: CLN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5 |
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| BabyScreen+ newborn screening v0.0 | CLN3 |
Zornitza Stark gene: CLN3 was added gene: CLN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 |
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| BabyScreen+ newborn screening v0.0 | CLDN14 |
Zornitza Stark gene: CLDN14 was added gene: CLDN14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | CLCN7 |
Zornitza Stark gene: CLCN7 was added gene: CLCN7 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, MIM# 611490 |
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| BabyScreen+ newborn screening v0.0 | CIB2 |
Zornitza Stark gene: CIB2 was added gene: CIB2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIB2 were set to 27344577; 26473954; 26445815; 23023331; 26173970; 26226137 Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439 |
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| BabyScreen+ newborn screening v0.0 | CFTR |
Zornitza Stark gene: CFTR was added gene: CFTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFTR were set to Cystic fibrosis, MIM#219700 |
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| BabyScreen+ newborn screening v0.0 | CEP83 |
Zornitza Stark gene: CEP83 was added gene: CEP83 was added to gNBS. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 33938610; 24882706 Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; ID; MONDO:0014374; Retinal dystrophy |
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| BabyScreen+ newborn screening v0.0 | CDSN |
Zornitza Stark gene: CDSN was added gene: CDSN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDSN were set to Hypotrichosis |
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| BabyScreen+ newborn screening v0.0 | CDK5RAP2 |
Zornitza Stark gene: CDK5RAP2 was added gene: CDK5RAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488 |
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| BabyScreen+ newborn screening v0.0 | CDH23 |
Zornitza Stark gene: CDH23 was added gene: CDH23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDH23 were set to Deafness, autosomal recessive; Usher syndrome, type 1D |
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| BabyScreen+ newborn screening v0.0 | CDC14A |
Zornitza Stark gene: CDC14A was added gene: CDC14A was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 |
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| BabyScreen+ newborn screening v0.0 | CCDC40 |
Zornitza Stark gene: CCDC40 was added gene: CCDC40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | CCDC39 |
Zornitza Stark gene: CCDC39 was added gene: CCDC39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | CBS |
Zornitza Stark gene: CBS was added gene: CBS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types |
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| BabyScreen+ newborn screening v0.0 | GIF |
Zornitza Stark gene: GIF was added gene: GIF was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIF were set to Intrinsic factor deficiency, MIM# 261000 |
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| BabyScreen+ newborn screening v0.0 | CASK |
Zornitza Stark gene: CASK was added gene: CASK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
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| BabyScreen+ newborn screening v0.0 | CABP2 |
Zornitza Stark gene: CABP2 was added gene: CABP2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899 |
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| BabyScreen+ newborn screening v0.0 | CA2 |
Zornitza Stark gene: CA2 was added gene: CA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis |
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| BabyScreen+ newborn screening v0.0 | BMPR1A |
Zornitza Stark gene: BMPR1A was added gene: BMPR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BMPR1A were set to Polyposis, juvenile intestinal, MIM# 174900 |
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| BabyScreen+ newborn screening v0.0 | BIN1 |
Zornitza Stark gene: BIN1 was added gene: BIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | AVPR2 |
Zornitza Stark gene: AVPR2 was added gene: AVPR2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green 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, MIM#304800 |
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| BabyScreen+ newborn screening v0.0 | ATP8B1 |
Zornitza Stark gene: ATP8B1 was added gene: ATP8B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 |
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| BabyScreen+ newborn screening v0.0 | ATP6V1B1 |
Zornitza Stark gene: ATP6V1B1 was added gene: ATP6V1B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis & hearing loss, MIM#267300 |
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| BabyScreen+ newborn screening v0.0 | ATP6V0A4 |
Zornitza Stark gene: ATP6V0A4 was added gene: ATP6V0A4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V0A4 were set to Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722 |
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| BabyScreen+ newborn screening v0.0 | ATP6V0A2 |
Zornitza Stark gene: ATP6V0A2 was added gene: ATP6V0A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA |
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| BabyScreen+ newborn screening v0.0 | ATM |
Zornitza Stark gene: ATM was added gene: ATM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-telangiectasia |
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| BabyScreen+ newborn screening v0.0 | ARSB |
Zornitza Stark gene: ARSB was added gene: ARSB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) |
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| BabyScreen+ newborn screening v0.0 | ARMC4 |
Zornitza Stark gene: ARMC4 was added gene: ARMC4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARMC4 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | ARID1B |
Zornitza Stark gene: ARID1B was added gene: ARID1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome |
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| BabyScreen+ newborn screening v0.0 | AR |
Zornitza Stark gene: AR was added gene: AR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C 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, MIM# 300068 |
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| BabyScreen+ newborn screening v0.0 | AQP2 |
Zornitza Stark gene: AQP2 was added gene: AQP2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 2, MIM#125800 |
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| BabyScreen+ newborn screening v0.0 | APC |
Zornitza Stark gene: APC was added gene: APC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APC were set to Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated |
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| BabyScreen+ newborn screening v0.0 | AP4M1 |
Zornitza Stark gene: AP4M1 was added gene: AP4M1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4M1 were set to 31915823; 32979048; 19559397; 25496299; 21937992; 28464862; 29096665 Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, MIM# 612936 |
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| BabyScreen+ newborn screening v0.0 | AP4E1 |
Zornitza Stark gene: AP4E1 was added gene: AP4E1 was added to gNBS. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4E1 were set to 20972249; 32979048; 23472171; 21620353; 21937992 Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744 |
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| BabyScreen+ newborn screening v0.0 | AP4B1 |
Zornitza Stark gene: AP4B1 was added gene: AP4B1 was added to gNBS. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 24700674; 32979048; 32166732; 32171285; 22290197; 21620353; 31525725; 24781758 Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066 |
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| BabyScreen+ newborn screening v0.0 | ANTXR2 |
Zornitza Stark gene: ANTXR2 was added gene: ANTXR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome |
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| BabyScreen+ newborn screening v0.0 | ANO10 |
Zornitza Stark gene: ANO10 was added gene: ANO10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10 |
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| BabyScreen+ newborn screening v0.0 | ANKH |
Zornitza Stark gene: ANKH was added gene: ANKH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKH were set to Craniometaphyseal dysplasia |
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| BabyScreen+ newborn screening v0.0 | ANK1 |
Zornitza Stark gene: ANK1 was added gene: ANK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANK1 were set to Spherocytosis |
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| BabyScreen+ newborn screening v0.0 | AMELX |
Zornitza Stark gene: AMELX was added gene: AMELX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AMELX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AMELX were set to Amelogenesis imperfecta |
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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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| BabyScreen+ newborn screening v0.0 | ALPL |
Zornitza Stark gene: ALPL was added gene: ALPL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to Hypophosphatasia, MIM#241500 |
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| BabyScreen+ newborn screening v0.0 | ALOXE3 |
Zornitza Stark gene: ALOXE3 was added gene: ALOXE3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | ALOX12B |
Zornitza Stark gene: ALOX12B was added gene: ALOX12B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | ALDH18A1 |
Zornitza Stark gene: ALDH18A1 was added gene: ALDH18A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA |
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| BabyScreen+ newborn screening v0.0 | ALAS2 |
Zornitza Stark gene: ALAS2 was added gene: ALAS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked |
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| BabyScreen+ newborn screening v0.0 | AKR1D1 |
Zornitza Stark gene: AKR1D1 was added gene: AKR1D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2 |
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| BabyScreen+ newborn screening v0.0 | AK2 |
Zornitza Stark gene: AK2 was added gene: AK2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK2 were set to Reticular dysgenesis, MIM# 267500 |
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| BabyScreen+ newborn screening v0.0 | AIRE |
Zornitza Stark gene: AIRE was added gene: AIRE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia |
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| BabyScreen+ newborn screening v0.0 | ADK |
Zornitza Stark gene: ADK was added gene: ADK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency |
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| BabyScreen+ newborn screening v0.0 | ADAR |
Zornitza Stark gene: ADAR was added gene: ADAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria |
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| BabyScreen+ newborn screening v0.0 | ADAMTSL2 |
Zornitza Stark gene: ADAMTSL2 was added gene: ADAMTSL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 |
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| BabyScreen+ newborn screening v0.0 | ACVRL1 |
Zornitza Stark gene: ACVRL1 was added gene: ACVRL1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376 |
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| BabyScreen+ newborn screening v0.0 | ACVR1 |
Zornitza Stark gene: ACVR1 was added gene: ACVR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva |
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| BabyScreen+ newborn screening v0.0 | ACTN4 |
Zornitza Stark gene: ACTN4 was added gene: ACTN4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTN4 were set to Glomerulosclerosis, focal segmental, 1 |
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| BabyScreen+ newborn screening v0.0 | ACTG2 |
Zornitza Stark gene: ACTG2 was added gene: ACTG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTG2 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome |
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| BabyScreen+ newborn screening v0.0 | ACE |
Zornitza Stark gene: ACE was added gene: ACE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACE were set to Renal tubular dysgenesis |
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| BabyScreen+ newborn screening v0.0 | ABCG5 |
Zornitza Stark gene: ABCG5 was added gene: ABCG5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCG5 were set to Sitosterolemia |
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| BabyScreen+ newborn screening v0.0 | ABCB4 |
Zornitza Stark gene: ABCB4 was added gene: ABCB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3 |
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| BabyScreen+ newborn screening v0.0 | ABCB11 |
Zornitza Stark gene: ABCB11 was added gene: ABCB11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2 |
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| BabyScreen+ newborn screening v0.0 | ABCA12 |
Zornitza Stark gene: ABCA12 was added gene: ABCA12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | AAAS |
Zornitza Stark gene: AAAS was added gene: AAAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome |
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