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Genomic newborn screening: BabyScreen+ v0.656 CNGB3 Zornitza Stark reviewed gene: CNGB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achromatopsia 3, MIM# 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.656 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
Genomic newborn screening: BabyScreen+ v0.656 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.656 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from Usher syndrome, type 3A to Usher syndrome, type 3A, MIM# 276902
Genomic newborn screening: BabyScreen+ v0.655 CLRN1 Zornitza Stark Classified gene: CLRN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.655 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.654 CLRN1 Zornitza Stark reviewed gene: CLRN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 3A, MIM# 276902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.654 CLPP Zornitza Stark Marked gene: CLPP as ready
Genomic newborn screening: BabyScreen+ v0.654 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.654 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.654 CLDN19 Zornitza Stark Marked gene: CLDN19 as ready
Genomic newborn screening: BabyScreen+ v0.654 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.654 CLDN19 Zornitza Stark Phenotypes for gene: CLDN19 were changed from Hypomagnesemia 5, renal, with ocular involvement to Deafness, autosomal recessive 116 MIM#619093
Genomic newborn screening: BabyScreen+ v0.653 CLDN19 Zornitza Stark Classified gene: CLDN19 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.653 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.652 CLDN19 Zornitza Stark reviewed gene: CLDN19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 116 MIM#619093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.652 CLDN14 Zornitza Stark Marked gene: CLDN14 as ready
Genomic newborn screening: BabyScreen+ v0.652 CLDN14 Zornitza Stark Gene: cldn14 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.652 CLDN14 Zornitza Stark Phenotypes for gene: CLDN14 were changed from Hearing loss, non-syndromic, autosomal recessive to Deafness, autosomal recessive 29, MIM# 614035
Genomic newborn screening: BabyScreen+ v0.651 CLDN14 Zornitza Stark reviewed gene: CLDN14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 29, MIM# 614035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.651 SFTPC Seb Lunke Marked gene: SFTPC as ready
Genomic newborn screening: BabyScreen+ v0.651 SFTPC Seb Lunke Gene: sftpc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.651 SFTPC Seb Lunke Phenotypes for gene: SFTPC were changed from Interstitial lung disease; Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620 to Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913
Genomic newborn screening: BabyScreen+ v0.650 SFTPC Seb Lunke reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.650 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Genomic newborn screening: BabyScreen+ v0.650 CEP78 Zornitza Stark Gene: cep78 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.650 CEP78 Zornitza Stark Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss to Cone-rod dystrophy and hearing loss MIM#617236
Genomic newborn screening: BabyScreen+ v0.649 CEP78 Zornitza Stark Classified gene: CEP78 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.649 CEP78 Zornitza Stark Gene: cep78 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.648 CEP78 Zornitza Stark changed review comment from: Gene-disease association assessed as 'strong' by ClinGen.

Atypical Usher phenotype.

However, onset of visual and hearing symptoms is variable, ranging from first to fourth decade, exclude for this reason.; to: Gene-disease association assessed as 'strong' by ClinGen.

Atypical Usher phenotype.

However, onset of visual and hearing symptoms is variable, ranging from first to fourth decade, exclude for this reason, unlikely to be detected by the newborn hearing screening program.
Genomic newborn screening: BabyScreen+ v0.648 CEP78 Zornitza Stark reviewed gene: CEP78: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.648 SFTPB Seb Lunke Marked gene: SFTPB as ready
Genomic newborn screening: BabyScreen+ v0.648 SFTPB Seb Lunke Gene: sftpb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.648 SFTPB Seb Lunke Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Genomic newborn screening: BabyScreen+ v0.647 SFTPB Seb Lunke Classified gene: SFTPB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.647 SFTPB Seb Lunke Gene: sftpb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.646 SFTPB Seb Lunke reviewed gene: SFTPB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.646 SETX Seb Lunke Marked gene: SETX as ready
Genomic newborn screening: BabyScreen+ v0.646 SETX Seb Lunke Gene: setx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.646 SETX Seb Lunke Phenotypes for gene: SETX were changed from Ataxia-ocular apraxia 2 to Spinocerebellar ataxia, autosomal recessive 1, 606002
Genomic newborn screening: BabyScreen+ v0.645 SETX Seb Lunke Classified gene: SETX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.645 SETX Seb Lunke Gene: setx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.644 SETX Seb Lunke reviewed gene: SETX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 1, 606002; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.644 SETBP1 Seb Lunke Marked gene: SETBP1 as ready
Genomic newborn screening: BabyScreen+ v0.644 SETBP1 Seb Lunke Gene: setbp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.644 SETBP1 Seb Lunke Phenotypes for gene: SETBP1 were changed from Schinzel-Giedion syndrome to Schinzel-Giedion midface retraction syndrome, MIM# 269150
Genomic newborn screening: BabyScreen+ v0.643 SETBP1 Seb Lunke Classified gene: SETBP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.643 SETBP1 Seb Lunke Gene: setbp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.642 SETBP1 Seb Lunke reviewed gene: SETBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.642 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Genomic newborn screening: BabyScreen+ v0.642 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.642 CLCN5 Zornitza Stark Phenotypes for gene: CLCN5 were changed from Dent disease to Dent disease, MIM#300009
Genomic newborn screening: BabyScreen+ v0.641 CLCN5 Zornitza Stark Classified gene: CLCN5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.641 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.640 CLCN5 Zornitza Stark reviewed gene: CLCN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease, MIM#300009; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.640 CIB2 Zornitza Stark Marked gene: CIB2 as ready
Genomic newborn screening: BabyScreen+ v0.640 CIB2 Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.640 CIB2 Zornitza Stark reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 48, MIM# 609439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.640 CHM Zornitza Stark Marked gene: CHM as ready
Genomic newborn screening: BabyScreen+ v0.640 CHM Zornitza Stark Gene: chm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.640 CHM Zornitza Stark Phenotypes for gene: CHM were changed from Choroideremia to Choroideraemia MIM#303100
Genomic newborn screening: BabyScreen+ v0.639 CHM Zornitza Stark Classified gene: CHM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.639 CHM Zornitza Stark Gene: chm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.638 CHM Zornitza Stark reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideraemia MIM#303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.638 CHKB Zornitza Stark Marked gene: CHKB as ready
Genomic newborn screening: BabyScreen+ v0.638 CHKB Zornitza Stark Gene: chkb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.638 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Genomic newborn screening: BabyScreen+ v0.637 CHKB Zornitza Stark Classified gene: CHKB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.637 CHKB Zornitza Stark Gene: chkb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.636 CHKB Zornitza Stark reviewed gene: CHKB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.636 CHD2 Zornitza Stark Marked gene: CHD2 as ready
Genomic newborn screening: BabyScreen+ v0.636 CHD2 Zornitza Stark Gene: chd2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.636 CHD2 Zornitza Stark Phenotypes for gene: CHD2 were changed from Developmental delay, intellectual disability, epilepsy to Epileptic encephalopathy, childhood-onset (MIM # 615369)
Genomic newborn screening: BabyScreen+ v0.635 CHD2 Zornitza Stark Classified gene: CHD2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.635 CHD2 Zornitza Stark Gene: chd2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.634 CHD2 Zornitza Stark reviewed gene: CHD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, childhood-onset (MIM # 615369); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.634 CFP Zornitza Stark Marked gene: CFP as ready
Genomic newborn screening: BabyScreen+ v0.634 CFP Zornitza Stark Gene: cfp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.634 CFP Zornitza Stark reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Properdin deficiency, X-linked MIM#312060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.634 CFL2 Zornitza Stark Marked gene: CFL2 as ready
Genomic newborn screening: BabyScreen+ v0.634 CFL2 Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.634 CFL2 Zornitza Stark Phenotypes for gene: CFL2 were changed from Nemaline myopathy to Nemaline myopathy 7, autosomal recessive, MIM# 610687
Genomic newborn screening: BabyScreen+ v0.633 CFL2 Zornitza Stark Classified gene: CFL2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.633 CFL2 Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.632 SERPINA1 Seb Lunke Marked gene: SERPINA1 as ready
Genomic newborn screening: BabyScreen+ v0.632 SERPINA1 Seb Lunke Gene: serpina1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.631 SERPINA1 Seb Lunke Classified gene: SERPINA1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.631 SERPINA1 Seb Lunke Gene: serpina1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.630 SERPINA1 Seb Lunke Tag for review tag was added to gene: SERPINA1.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.630 CFC1 Zornitza Stark Marked gene: CFC1 as ready
Genomic newborn screening: BabyScreen+ v0.630 CFC1 Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.630 CFC1 Zornitza Stark Phenotypes for gene: CFC1 were changed from Congenital heart defects to Heterotaxy, visceral, 2, autosomal MIM#605376
Genomic newborn screening: BabyScreen+ v0.629 CFC1 Zornitza Stark Classified gene: CFC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.629 CFC1 Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.628 CFC1 Zornitza Stark reviewed gene: CFC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 2, autosomal MIM#605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.628 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Genomic newborn screening: BabyScreen+ v0.628 CEP83 Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.628 CEP83 Zornitza Stark Classified gene: CEP83 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.628 CEP83 Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.627 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Genomic newborn screening: BabyScreen+ v0.627 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.626 CEP290 Zornitza Stark Classified gene: CEP290 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.626 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.625 SELENON Seb Lunke Marked gene: SELENON as ready
Genomic newborn screening: BabyScreen+ v0.625 SELENON Seb Lunke Gene: selenon has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.625 SELENON Seb Lunke Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine; Myopathy, congenital, with fiber-type disproportion to Myopathy, congenital, with fiber-type disproportion, MIM# 255310
Genomic newborn screening: BabyScreen+ v0.624 SELENON Seb Lunke Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.623 SELENON Seb Lunke Classified gene: SELENON as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.623 SELENON Seb Lunke Gene: selenon has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.622 SELENON Seb Lunke reviewed gene: SELENON: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.622 VCP Zornitza Stark Marked gene: VCP as ready
Genomic newborn screening: BabyScreen+ v0.622 VCP Zornitza Stark Gene: vcp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.621 VCP Zornitza Stark Publications for gene: VCP were set to
Genomic newborn screening: BabyScreen+ v0.620 VCP Zornitza Stark Classified gene: VCP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.620 VCP Zornitza Stark Gene: vcp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.619 VCP Zornitza Stark reviewed gene: VCP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2Y, MIM# 616687; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.619 VDR Zornitza Stark Marked gene: VDR as ready
Genomic newborn screening: BabyScreen+ v0.619 VDR Zornitza Stark Gene: vdr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.618 VDR Zornitza Stark Publications for gene: VDR were set to
Genomic newborn screening: BabyScreen+ v0.617 VDR Zornitza Stark Tag treatable tag was added to gene: VDR.
Genomic newborn screening: BabyScreen+ v0.617 VHL Zornitza Stark Marked gene: VHL as ready
Genomic newborn screening: BabyScreen+ v0.617 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.617 VHL Zornitza Stark Publications for gene: VHL were set to
Genomic newborn screening: BabyScreen+ v0.616 VHL Zornitza Stark Phenotypes for gene: VHL were changed from von Hippel-Lindau syndrome to von Hippel-Lindau syndrome MIM#193300
Genomic newborn screening: BabyScreen+ v0.615 VHL Zornitza Stark Tag for review tag was added to gene: VHL.
Genomic newborn screening: BabyScreen+ v0.615 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Genomic newborn screening: BabyScreen+ v0.615 CEP152 Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.614 CEP152 Zornitza Stark Classified gene: CEP152 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.614 CEP152 Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.613 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Genomic newborn screening: BabyScreen+ v0.613 CDT1 Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.613 CDT1 Zornitza Stark Classified gene: CDT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.613 CDT1 Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.612 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.612 CDSN Zornitza Stark Marked gene: CDSN as ready
Genomic newborn screening: BabyScreen+ v0.612 CDSN Zornitza Stark Gene: cdsn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.612 CDSN Zornitza Stark Phenotypes for gene: CDSN were changed from Hypotrichosis to Peeling skin syndrome 1, MIM#270300
Genomic newborn screening: BabyScreen+ v0.611 CDSN Zornitza Stark Mode of inheritance for gene: CDSN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.610 CDSN Zornitza Stark Classified gene: CDSN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.610 CDSN Zornitza Stark Gene: cdsn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.609 CDSN Zornitza Stark reviewed gene: CDSN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 1 MIM#270300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.609 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Genomic newborn screening: BabyScreen+ v0.609 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.609 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from Epileptic encephalopathy, early infantile, 2 to Epileptic encephalopathy, early infantile, 2, MIM 300672
Genomic newborn screening: BabyScreen+ v0.608 CDKL5 Zornitza Stark Classified gene: CDKL5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.608 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.607 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.607 CDH23 Zornitza Stark Marked gene: CDH23 as ready
Genomic newborn screening: BabyScreen+ v0.607 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.606 CDH23 Zornitza Stark Tag for review tag was added to gene: CDH23.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.606 CDC14A Zornitza Stark Marked gene: CDC14A as ready
Genomic newborn screening: BabyScreen+ v0.606 CDC14A Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.606 UROS Lilian Downie reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24027798; Phenotypes: Porphyria, congenital erythropoietic MIM#263700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 USH1C Lilian Downie reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301442; Phenotypes: Usher syndrome type 1 MIM#276904; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 USH1G Lilian Downie reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301442; Phenotypes: Usher syndrome type 1 MIM#606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 USH2A Lilian Downie reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301515, PMID: 36041150 , PMID: 34331125; Phenotypes: Usher Syndrome Type II MIM#276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 VCAN Lilian Downie edited their review of gene: VCAN: Changed rating: GREEN; Changed publications: PMID: 16043844, PMID: 20301747
Genomic newborn screening: BabyScreen+ v0.606 VCAN Lilian Downie reviewed gene: VCAN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Wagner syndrome MIM#143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.606 GBA Alison Yeung reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease type 1, MIM#230800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.606 GATA4 Alison Yeung Tag for review tag was added to gene: GATA4.
Genomic newborn screening: BabyScreen+ v0.606 GATA4 Alison Yeung reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.606 G6PD Alison Yeung Tag review tag was added to gene: G6PD.
Genomic newborn screening: BabyScreen+ v0.606 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Genomic newborn screening: BabyScreen+ v0.606 DDR2 Zornitza Stark Gene: ddr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.605 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.604 DDR2 Zornitza Stark reviewed gene: DDR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.604 VHL Lilian Downie reviewed gene: VHL: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301636, PMID: 33945366, PMID: 34613603; Phenotypes: von Hippel-Lindau syndrome MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark Marked gene: CD79B as ready
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark Gene: cd79b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark Tag treatable tag was added to gene: CD79B.
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinemia 6 MIM#612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark Marked gene: CD79A as ready
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark Gene: cd79a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark changed review comment from: At least 5 unrelated families.

Presents in infancy.

Treatment: immunoglobulin replacement.; to: At least 5 unrelated families.

Presents in infancy with severe recurrent infections.

Treatment: immunoglobulin replacement.
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark Tag treatable tag was added to gene: CD79A.
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 3, MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.603 CD40LG Zornitza Stark Marked gene: CD40LG as ready
Genomic newborn screening: BabyScreen+ v0.603 CD40LG Zornitza Stark Gene: cd40lg has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.603 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from Immunodeficiency, X-linked, with hyper-IgM to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230
Genomic newborn screening: BabyScreen+ v0.602 CD40LG Zornitza Stark Tag treatable tag was added to gene: CD40LG.
Genomic newborn screening: BabyScreen+ v0.602 CD40LG Zornitza Stark reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.602 CD3E Zornitza Stark Marked gene: CD3E as ready
Genomic newborn screening: BabyScreen+ v0.602 CD3E Zornitza Stark Gene: cd3e has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.602 CD3E Zornitza Stark reviewed gene: CD3E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 18 MIM# 615615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark Marked gene: CD3D as ready
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark Tag treatable tag was added to gene: CD3D.
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 19 MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.602 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Genomic newborn screening: BabyScreen+ v0.602 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.601 VIPAS39 Zornitza Stark Publications for gene: VIPAS39 were set to
Genomic newborn screening: BabyScreen+ v0.600 VIPAS39 Zornitza Stark Classified gene: VIPAS39 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.600 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.599 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Genomic newborn screening: BabyScreen+ v0.599 VLDLR Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.598 VLDLR Zornitza Stark Classified gene: VLDLR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.598 VLDLR Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.597 VPS13A Zornitza Stark Marked gene: VPS13A as ready
Genomic newborn screening: BabyScreen+ v0.597 VPS13A Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.597 VPS13A Zornitza Stark Phenotypes for gene: VPS13A were changed from Choreoacanthocytosis to Choreoacanthocytosis MIM#200150
Genomic newborn screening: BabyScreen+ v0.596 VPS13A Zornitza Stark Classified gene: VPS13A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.596 VPS13A Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.595 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Genomic newborn screening: BabyScreen+ v0.595 VPS13B Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.595 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from Cohen syndrome to Cohen syndrome MIM#216550
Genomic newborn screening: BabyScreen+ v0.594 VPS13B Zornitza Stark Classified gene: VPS13B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.594 VPS13B Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.593 ARSA Zornitza Stark Publications for gene: ARSA were set to
Genomic newborn screening: BabyScreen+ v0.592 ARSA Zornitza Stark Tag for review was removed from gene: ARSA.
Genomic newborn screening: BabyScreen+ v0.592 GCK Zornitza Stark Marked gene: GCK as ready
Genomic newborn screening: BabyScreen+ v0.592 GCK Zornitza Stark Gene: gck has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.592 GCK Zornitza Stark Mode of inheritance for gene: GCK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.591 GCK Zornitza Stark reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.591 G6PC Zornitza Stark Marked gene: G6PC as ready
Genomic newborn screening: BabyScreen+ v0.591 G6PC Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.591 G6PC Zornitza Stark Publications for gene: G6PC were set to
Genomic newborn screening: BabyScreen+ v0.590 G6PC Zornitza Stark Tag treatable tag was added to gene: G6PC.
Genomic newborn screening: BabyScreen+ v0.590 G6PC Zornitza Stark reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.590 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Genomic newborn screening: BabyScreen+ v0.590 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.590 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from Fucosidosis to Fucosidosis, MIM# 230000
Genomic newborn screening: BabyScreen+ v0.589 FUCA1 Zornitza Stark Publications for gene: FUCA1 were set to
Genomic newborn screening: BabyScreen+ v0.588 FUCA1 Zornitza Stark Tag for review tag was added to gene: FUCA1.
Tag treatable tag was added to gene: FUCA1.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.588 VPS13B Lilian Downie reviewed gene: VPS13B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen syndrome MIM#216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.588 ARSA John Christodoulou reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25987178, PMID: 23348427, PMID: 33195324; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.588 BSCL2 Alison Yeung commented on gene: BSCL2
Genomic newborn screening: BabyScreen+ v0.588 CAVIN1 Alison Yeung changed review comment from: note: metreleptin available in Australia under the label of Atacand; to: note: metreleptin is available under trade name of Myalept in USA and soon to be available in Australia
Genomic newborn screening: BabyScreen+ v0.588 CAVIN1 Alison Yeung commented on gene: CAVIN1
Genomic newborn screening: BabyScreen+ v0.588 CYP21A2 Zornitza Stark Classified gene: CYP21A2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.588 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.587 CYP21A2 Zornitza Stark Tag for review was removed from gene: CYP21A2.
Genomic newborn screening: BabyScreen+ v0.587 CYP21A2 Zornitza Stark edited their review of gene: CYP21A2: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.587 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Genomic newborn screening: BabyScreen+ v0.587 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.587 CYP11A1 Zornitza Stark Tag for review was removed from gene: CYP11A1.
Genomic newborn screening: BabyScreen+ 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.
Genomic newborn screening: BabyScreen+ v0.587 COQ7 Zornitza Stark Classified gene: COQ7 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.587 COQ7 Zornitza Stark Gene: coq7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ 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.
Genomic newborn screening: BabyScreen+ v0.586 COQ7 Zornitza Stark edited their review of gene: COQ7: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.586 CBS Zornitza Stark Classified gene: CBS as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.586 CBS Zornitza Stark Gene: cbs has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ 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.
Genomic newborn screening: BabyScreen+ v0.585 CBS Zornitza Stark edited their review of gene: CBS: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.585 CAVIN1 Zornitza Stark Tag for review was removed from gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.585 BSCL2 Zornitza Stark Tag for review was removed from gene: BSCL2.
Genomic newborn screening: BabyScreen+ v0.585 BCHE Zornitza Stark Marked gene: BCHE as ready
Genomic newborn screening: BabyScreen+ v0.585 BCHE Zornitza Stark Gene: bche has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.585 BCHE Zornitza Stark Tag for review was removed from gene: BCHE.
Tag pharmacogenomic tag was added to gene: BCHE.
Genomic newborn screening: BabyScreen+ 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.
Genomic newborn screening: BabyScreen+ v0.585 BCHE Zornitza Stark edited their review of gene: BCHE: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.585 ATP7B Zornitza Stark Tag for review was removed from gene: ATP7B.
Genomic newborn screening: BabyScreen+ v0.585 ATP7B Zornitza Stark commented on gene: ATP7B: Group discussion: acute liver failure can be fatal, and the disorder is treatable.
Genomic newborn screening: BabyScreen+ v0.585 ATP7B Zornitza Stark edited their review of gene: ATP7B: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.585 ATP7A Zornitza Stark Tag for review was removed from gene: ATP7A.
Genomic newborn screening: BabyScreen+ v0.585 ATP6V1B1 Zornitza Stark Tag for review was removed from gene: ATP6V1B1.
Genomic newborn screening: BabyScreen+ v0.585 ATP6V0A4 Zornitza Stark Tag for review was removed from gene: ATP6V0A4.
Genomic newborn screening: BabyScreen+ v0.585 AMN Zornitza Stark Tag for review was removed from gene: AMN.
Genomic newborn screening: BabyScreen+ v0.585 AKR1D1 Zornitza Stark Tag for review was removed from gene: AKR1D1.
Genomic newborn screening: BabyScreen+ v0.585 AIRE Zornitza Stark Tag for review was removed from gene: AIRE.
Genomic newborn screening: BabyScreen+ v0.585 AGXT Zornitza Stark Tag for review was removed from gene: AGXT.
Genomic newborn screening: BabyScreen+ v0.585 ABCD1 Zornitza Stark Tag for review was removed from gene: ABCD1.
Genomic newborn screening: BabyScreen+ v0.585 ABCC6 Zornitza Stark changed review comment from: Well established gene-disease association.

Severe disorder with onset in infancy, can be fatal.

Treatment available: etidronate.

However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder.

There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.; to: Well established gene-disease association.

Severe disorder with onset in infancy, can be fatal.

Treatment available: etidronate.

However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. However, imaging may be able to determine severity.

There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.
Genomic newborn screening: BabyScreen+ v0.585 AAAS Zornitza Stark Tag for review was removed from gene: AAAS.
Genomic newborn screening: BabyScreen+ v0.585 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Genomic newborn screening: BabyScreen+ v0.585 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.585 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.585 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.584 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
Genomic newborn screening: BabyScreen+ v0.584 FLAD1 Zornitza Stark Gene: flad1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.584 FLAD1 Zornitza Stark Publications for gene: FLAD1 were set to
Genomic newborn screening: BabyScreen+ v0.583 FLAD1 Zornitza Stark Tag for review tag was added to gene: FLAD1.
Tag treatable tag was added to gene: FLAD1.
Genomic newborn screening: BabyScreen+ v0.583 FLAD1 Zornitza Stark reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31392824; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.583 GCK John Christodoulou reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: hypoglycaemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.583 G6PC John Christodoulou reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25356975; Phenotypes: hypoglycaemia, IUGR, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.583 CCDC40 Zornitza Stark Marked gene: CCDC40 as ready
Genomic newborn screening: BabyScreen+ v0.583 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.583 CCDC40 Zornitza Stark Phenotypes for gene: CCDC40 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 15, MIM#613808
Genomic newborn screening: BabyScreen+ v0.582 CCDC40 Zornitza Stark Classified gene: CCDC40 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.582 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.581 CCDC39 Zornitza Stark Marked gene: CCDC39 as ready
Genomic newborn screening: BabyScreen+ v0.581 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.581 CCDC39 Zornitza Stark Phenotypes for gene: CCDC39 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 14, MIM# 613807
Genomic newborn screening: BabyScreen+ v0.580 CCDC39 Zornitza Stark Classified gene: CCDC39 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.580 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.579 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Genomic newborn screening: BabyScreen+ v0.579 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.579 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from Joubert syndrome to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111
Genomic newborn screening: BabyScreen+ v0.578 CC2D2A Zornitza Stark Classified gene: CC2D2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.578 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.577 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Marked gene: CAVIN1 as ready
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4 to Lipodystrophy, congenital generalized, type 4, MIM# 613327
Genomic newborn screening: BabyScreen+ v0.576 CAVIN1 Zornitza Stark Publications for gene: CAVIN1 were set to
Genomic newborn screening: BabyScreen+ v0.575 CAVIN1 Zornitza Stark Tag for review tag was added to gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.575 CAVIN1 Zornitza Stark reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.575 CAV3 Zornitza Stark Marked gene: CAV3 as ready
Genomic newborn screening: BabyScreen+ v0.575 CAV3 Zornitza Stark Gene: cav3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.575 CAV3 Zornitza Stark Phenotypes for gene: CAV3 were changed from Caveolinopathy; Muscular dystrophy, limb-girdle, type IC to Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320
Genomic newborn screening: BabyScreen+ v0.574 CAV3 Zornitza Stark Classified gene: CAV3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.574 CAV3 Zornitza Stark Gene: cav3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.573 CAV3 Zornitza Stark reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, distal, Tateyama type MIM#614321, Rippling muscle disease 2 MIM#606072, Creatine phosphokinase, elevated serum MIM#123320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.573 CBL Zornitza Stark Marked gene: CBL as ready
Genomic newborn screening: BabyScreen+ v0.573 CBL Zornitza Stark Gene: cbl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.573 CBL Zornitza Stark Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Genomic newborn screening: BabyScreen+ v0.572 CBL Zornitza Stark Classified gene: CBL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.572 CBL Zornitza Stark Gene: cbl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.571 CBL Zornitza Stark reviewed gene: CBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.571 CASQ2 Zornitza Stark Marked gene: CASQ2 as ready
Genomic newborn screening: BabyScreen+ v0.571 CASQ2 Zornitza Stark Gene: casq2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.571 CASQ2 Zornitza Stark Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Genomic newborn screening: BabyScreen+ v0.570 CASQ2 Zornitza Stark Mode of inheritance for gene: CASQ2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.569 CASQ2 Zornitza Stark Classified gene: CASQ2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.569 CASQ2 Zornitza Stark Gene: casq2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.568 CASQ2 Zornitza Stark Tag for review tag was added to gene: CASQ2.
Tag treatable tag was added to gene: CASQ2.
Genomic newborn screening: BabyScreen+ v0.568 CASQ2 Zornitza Stark reviewed gene: CASQ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.568 CASK Zornitza Stark Marked gene: CASK as ready
Genomic newborn screening: BabyScreen+ v0.568 CASK Zornitza Stark Gene: cask has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.567 CASK Zornitza Stark Mode of inheritance for gene: CASK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.566 CASK Zornitza Stark Classified gene: CASK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.566 CASK Zornitza Stark Gene: cask has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.565 CARD11 Zornitza Stark Marked gene: CARD11 as ready
Genomic newborn screening: BabyScreen+ v0.565 CARD11 Zornitza Stark Gene: card11 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.564 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Genomic newborn screening: BabyScreen+ v0.564 CHD7 Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.564 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from CHARGE syndrome to CHARGE syndrome, MIM# 214800
Genomic newborn screening: BabyScreen+ v0.563 CHD7 Zornitza Stark Classified gene: CHD7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.563 CHD7 Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.562 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.562 CA2 Zornitza Stark Marked gene: CA2 as ready
Genomic newborn screening: BabyScreen+ v0.562 CA2 Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.561 CA2 Zornitza Stark Tag treatable tag was added to gene: CA2.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.561 CAPN3 Zornitza Stark Marked gene: CAPN3 as ready
Genomic newborn screening: BabyScreen+ v0.561 CAPN3 Zornitza Stark Gene: capn3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.560 CAPN3 Zornitza Stark Classified gene: CAPN3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.560 CAPN3 Zornitza Stark Gene: capn3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.559 CACNA1F Zornitza Stark Marked gene: CACNA1F as ready
Genomic newborn screening: BabyScreen+ v0.559 CACNA1F Zornitza Stark Gene: cacna1f has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.559 CACNA1F Zornitza Stark Phenotypes for gene: CACNA1F were changed from Night blindness, congenital stationary (complete), 1A, X-linked to Aland Island eye disease MIM#300600; Cone-rod dystrophy, X-linked, 3 MIM#300476; Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071
Genomic newborn screening: BabyScreen+ v0.558 CACNA1F Zornitza Stark Classified gene: CACNA1F as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.558 CACNA1F Zornitza Stark Gene: cacna1f has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.557 CACNA1F Zornitza Stark reviewed gene: CACNA1F: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aland Island eye disease MIM#300600, Cone-rod dystrophy, X-linked, 3 MIM#300476, Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.557 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Genomic newborn screening: BabyScreen+ v0.557 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.557 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2 to Episodic ataxia, type 2, MIM# 108500
Genomic newborn screening: BabyScreen+ v0.556 CACNA1A Zornitza Stark Classified gene: CACNA1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.556 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.555 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 2, MIM# 108500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.555 CABP2 Zornitza Stark Marked gene: CABP2 as ready
Genomic newborn screening: BabyScreen+ v0.555 CABP2 Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.555 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Paragangliomas 1, with or without deafness, MIM# 168000
Genomic newborn screening: BabyScreen+ v0.554 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.553 SDHD Zornitza Stark reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.553 SCNN1A Zornitza Stark Tag treatable tag was added to gene: SCNN1A.
Genomic newborn screening: BabyScreen+ v0.553 SCN8A Zornitza Stark Tag for review tag was added to gene: SCN8A.
Genomic newborn screening: BabyScreen+ v0.553 GATA3 Zornitza Stark Marked gene: GATA3 as ready
Genomic newborn screening: BabyScreen+ v0.553 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.553 GATA3 Zornitza Stark Tag treatable tag was added to gene: GATA3.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.553 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Genomic newborn screening: BabyScreen+ v0.553 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.553 GATA2 Zornitza Stark Publications for gene: GATA2 were set to PMID: 25397911, 30047422
Genomic newborn screening: BabyScreen+ v0.552 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
Genomic newborn screening: BabyScreen+ v0.552 GAN Zornitza Stark Marked gene: GAN as ready
Genomic newborn screening: BabyScreen+ v0.552 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.552 GAN Zornitza Stark Phenotypes for gene: GAN were changed from Giant axonal neuropathy to Giant axonal neuropathy-1, MIM#256850
Genomic newborn screening: BabyScreen+ v0.551 GAN Zornitza Stark Classified gene: GAN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.551 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.550 GAN Zornitza Stark reviewed gene: GAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM#256850; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.550 GAMT Zornitza Stark Marked gene: GAMT as ready
Genomic newborn screening: BabyScreen+ v0.550 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.550 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Genomic newborn screening: BabyScreen+ v0.550 GALNS Zornitza Stark Marked gene: GALNS as ready
Genomic newborn screening: BabyScreen+ v0.550 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.550 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA to Mucopolysaccharidosis IVA, MIM#253000
Genomic newborn screening: BabyScreen+ v0.549 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Genomic newborn screening: BabyScreen+ v0.549 GALC Zornitza Stark Marked gene: GALC as ready
Genomic newborn screening: BabyScreen+ v0.549 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.549 GALC Zornitza Stark Phenotypes for gene: GALC were changed from Krabbe disease to Krabbe disease, MIM#245200
Genomic newborn screening: BabyScreen+ v0.548 GALC Zornitza Stark Tag treatable tag was added to gene: GALC.
Genomic newborn screening: BabyScreen+ v0.548 SDHD Seb Lunke Marked gene: SDHD as ready
Genomic newborn screening: BabyScreen+ v0.548 SDHD Seb Lunke Gene: sdhd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.548 SDHD Seb Lunke Phenotypes for gene: SDHD were changed from Hereditary Paraganglioma-Pheochromocytoma Syndromes to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167
Genomic newborn screening: BabyScreen+ v0.547 SDHD Seb Lunke Mode of inheritance for gene: SDHD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.546 SDHD Seb Lunke Classified gene: SDHD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.546 SDHD Seb Lunke Gene: sdhd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.545 SDHD Seb Lunke reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark Marked gene: C9 as ready
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark Gene: c9 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark Tag treatable tag was added to gene: C9.
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C9 deficiency MIM#613825; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.545 C8B Zornitza Stark Marked gene: C8B as ready
Genomic newborn screening: BabyScreen+ v0.545 C8B Zornitza Stark Gene: c8b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.545 C8B Zornitza Stark reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.545 C8A Zornitza Stark Marked gene: C8A as ready
Genomic newborn screening: BabyScreen+ v0.545 C8A Zornitza Stark Gene: c8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.545 C8A Zornitza Stark Classified gene: C8A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.545 C8A Zornitza Stark Gene: c8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.544 C8A Zornitza Stark reviewed gene: C8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark Marked gene: C7 as ready
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark Gene: c7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark Tag treatable tag was added to gene: C7.
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C7 deficiency MIM#610102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.544 SCO2 Seb Lunke Marked gene: SCO2 as ready
Genomic newborn screening: BabyScreen+ v0.544 SCO2 Seb Lunke Gene: sco2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.544 SCO2 Seb Lunke Phenotypes for gene: SCO2 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency to Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377
Genomic newborn screening: BabyScreen+ v0.543 SCO2 Seb Lunke Classified gene: SCO2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.543 SCO2 Seb Lunke Gene: sco2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.542 SCO2 Seb Lunke reviewed gene: SCO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.542 SCNN1B Seb Lunke Marked gene: SCNN1B as ready
Genomic newborn screening: BabyScreen+ v0.542 SCNN1B Seb Lunke Gene: scnn1b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.542 SCNN1B Seb Lunke reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.542 SCNN1A Seb Lunke Marked gene: SCNN1A as ready
Genomic newborn screening: BabyScreen+ v0.542 SCNN1A Seb Lunke Gene: scnn1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.542 SCNN1A Seb Lunke Phenotypes for gene: SCNN1A were changed from Pseudohypoaldosteronism, MIM#264350 to Pseudohypoaldosteronism, type I, MIM# 264350
Genomic newborn screening: BabyScreen+ v0.541 SCNN1A Seb Lunke reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 SCN8A Seb Lunke Marked gene: SCN8A as ready
Genomic newborn screening: BabyScreen+ v0.541 SCN8A Seb Lunke Gene: scn8a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 SCN8A Seb Lunke reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27559564; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.541 GATA2 Alison Yeung reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 21, MIM# 614172, MONDO:0042982, Emberger syndrome, MIM# 614038, MONDO:0013540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.541 GAN Alison Yeung reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM#256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 GAMT Alison Yeung reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2, MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.541 GALC Alison Yeung reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Krabbe disease, MIM#245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark Tag treatable tag was added to gene: C6.
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark Marked gene: C6 as ready
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark Gene: c6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark Marked gene: FH as ready
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark Tag treatable tag was added to gene: FH.
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fumarase deficiency, MIM#606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FBP1 Zornitza Stark Marked gene: FBP1 as ready
Genomic newborn screening: BabyScreen+ v0.541 FBP1 Zornitza Stark Gene: fbp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 FBP1 Zornitza Stark reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose-1,6-bisphosphatase deficiency, MIM# 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FAH Zornitza Stark Marked gene: FAH as ready
Genomic newborn screening: BabyScreen+ v0.541 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark changed review comment from: Well established gene-disease association.

Onset in infancy.; to: Well established gene-disease association.

Onset in infancy. Typically high mortality.
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy, MIM# 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FH John Christodoulou reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: mitochondrial encephalopathy, failure to thrive, developmental delay, hypotonia, cerebral atrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.541 FAH John Christodoulou reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.541 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Genomic newborn screening: BabyScreen+ v0.541 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, MIM#614750 to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Genomic newborn screening: BabyScreen+ v0.540 DPAGT1 Zornitza Stark Tag for review tag was added to gene: DPAGT1.
Genomic newborn screening: BabyScreen+ v0.540 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.540 DOLK Zornitza Stark Marked gene: DOLK as ready
Genomic newborn screening: BabyScreen+ v0.540 DOLK Zornitza Stark Gene: dolk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.540 DOLK Zornitza Stark Classified gene: DOLK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.540 DOLK Zornitza Stark Gene: dolk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.539 DOLK Zornitza Stark changed review comment from: Established gene-disease association.

Congenital onset. Severe multi-system disorder, mortality in infancy.; to: Established gene-disease association.

Congenital onset. Severe multi-system disorder, mortality in infancy.

No specific treatment.
Genomic newborn screening: BabyScreen+ v0.539 DOLK Zornitza Stark reviewed gene: DOLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Marked gene: DLD as ready
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Gene: dld has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Classified gene: DLD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Gene: dld has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.538 DLD Zornitza Stark reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.538 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Genomic newborn screening: BabyScreen+ v0.538 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.538 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome to Smith-Lemli-Opitz syndrome, MIM#270400
Genomic newborn screening: BabyScreen+ v0.537 DHCR7 Zornitza Stark Classified gene: DHCR7 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.537 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.536 DHCR7 Zornitza Stark Tag for review tag was added to gene: DHCR7.
Genomic newborn screening: BabyScreen+ v0.536 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.536 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Genomic newborn screening: BabyScreen+ v0.536 DGUOK Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.536 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Genomic newborn screening: BabyScreen+ v0.535 DGUOK Zornitza Stark Classified gene: DGUOK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.535 DGUOK Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.534 DGUOK Zornitza Stark Tag for review tag was added to gene: DGUOK.
Genomic newborn screening: BabyScreen+ v0.534 DGUOK Zornitza Stark reviewed gene: DGUOK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.534 DDC Zornitza Stark Marked gene: DDC as ready
Genomic newborn screening: BabyScreen+ v0.534 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.534 DDC Zornitza Stark Tag treatable tag was added to gene: DDC.
Tag clinical trial tag was added to gene: DDC.
Genomic newborn screening: BabyScreen+ v0.534 DDC Zornitza Stark reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aromatic L-amino acid decarboxylase deficiency MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.534 DGAT1 Zornitza Stark Marked gene: DGAT1 as ready
Genomic newborn screening: BabyScreen+ v0.534 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.534 DGAT1 Zornitza Stark Tag treatable tag was added to gene: DGAT1.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.534 D2HGDH Zornitza Stark Marked gene: D2HGDH as ready
Genomic newborn screening: BabyScreen+ v0.534 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.534 D2HGDH Zornitza Stark Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria to D-2-hydroxyglutaric aciduria MIM#600721
Genomic newborn screening: BabyScreen+ v0.533 D2HGDH Zornitza Stark Classified gene: D2HGDH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.533 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.532 D2HGDH Zornitza Stark reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.532 CYP27B1 Zornitza Stark Marked gene: CYP27B1 as ready
Genomic newborn screening: BabyScreen+ v0.532 CYP27B1 Zornitza Stark Gene: cyp27b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.532 CYP27B1 Zornitza Stark Phenotypes for gene: CYP27B1 were changed from Vitamin D-dependent rickets, type I to Vitamin D-dependent rickets, type I MIM#264700
Genomic newborn screening: BabyScreen+ v0.531 CYP27B1 Zornitza Stark Tag treatable tag was added to gene: CYP27B1.
Genomic newborn screening: BabyScreen+ v0.531 CYP27B1 Zornitza Stark reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin D-dependent rickets, type I MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.531 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
Genomic newborn screening: BabyScreen+ v0.531 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.531 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, MIM# 213700
Genomic newborn screening: BabyScreen+ v0.530 CYP27A1 Zornitza Stark Classified gene: CYP27A1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.530 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.529 CYP27A1 Zornitza Stark Tag for review tag was added to gene: CYP27A1.
Tag treatable tag was added to gene: CYP27A1.
Genomic newborn screening: BabyScreen+ v0.529 CYP27A1 Zornitza Stark edited their review of gene: CYP27A1: Changed rating: RED
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark Tag treatable tag was added to gene: CYP17A1.
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark Marked gene: CYP11B2 as ready
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark Gene: cyp11b2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark Tag treatable tag was added to gene: CYP11B2.
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.529 CYP11A1 Zornitza Stark Tag for review tag was added to gene: CYP11A1.
Tag treatable tag was added to gene: CYP11A1.
Genomic newborn screening: BabyScreen+ v0.529 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.529 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Genomic newborn screening: BabyScreen+ v0.529 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.529 CYP11B1 Zornitza Stark Publications for gene: CYP11B1 were set to
Genomic newborn screening: BabyScreen+ v0.528 CYP11B1 Zornitza Stark Tag treatable tag was added to gene: CYP11B1.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark Marked gene: CUBN as ready
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark Gene: cubn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Imerslund-Grasbeck syndrome 1 MIM#261100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.528 CTSD Zornitza Stark Marked gene: CTSD as ready
Genomic newborn screening: BabyScreen+ v0.528 CTSD Zornitza Stark Gene: ctsd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.528 CTSD Zornitza Stark Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127
Genomic newborn screening: BabyScreen+ v0.527 CTSD Zornitza Stark Classified gene: CTSD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.527 CTSD Zornitza Stark Gene: ctsd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.526 CTNS Zornitza Stark Marked gene: CTNS as ready
Genomic newborn screening: BabyScreen+ v0.526 CTNS Zornitza Stark Gene: ctns has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.526 CTNS Zornitza Stark Phenotypes for gene: CTNS were changed from Cystinosis to Cystinosis, nephropathic MIM#219800
Genomic newborn screening: BabyScreen+ v0.525 CTNS Zornitza Stark Tag treatable tag was added to gene: CTNS.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.525 CPS1 Zornitza Stark Marked gene: CPS1 as ready
Genomic newborn screening: BabyScreen+ v0.525 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.525 CPS1 Zornitza Stark Publications for gene: CPS1 were set to
Genomic newborn screening: BabyScreen+ v0.524 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
Genomic newborn screening: BabyScreen+ v0.524 CPS1 Zornitza Stark reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28281899; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Tag for review tag was added to gene: COQ9.
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark edited their review of gene: COQ9: Added comment: Listed as treatable on rx-genes based on expert opinion. For review.; Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Gene: coq9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Classified gene: COQ9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Gene: coq9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.523 COQ9 Zornitza Stark reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DPAGT1 John Christodoulou reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DOLK John Christodoulou reviewed gene: DOLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.523 DHCR7 John Christodoulou reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DGUOK John Christodoulou reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: liver failure, ophthalmoplegia, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.523 DGAT1 John Christodoulou reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31778854; Phenotypes: intractable diarrhoea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 D2HGDH John Christodoulou reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: developmental delay, dysmorphism, epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP27B1 John Christodoulou reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.523 CYP11B2 John Christodoulou reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary hyperaldosteronism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.523 CUBN John Christodoulou commented on gene: CUBN: defect of intestinal vitamin B12 absorption; treatable with pharmacological doses of parenteral vitamin B12
Genomic newborn screening: BabyScreen+ v0.523 CUBN John Christodoulou reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: megaloblastic anaemia, sensorimotor neuropathy, failure to thrive, cognitive impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.523 CTNS John Christodoulou reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi tubulopathy, photophobia, chronic renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CPS1 John Christodoulou reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperammonaemia and subsequent recurrent episodes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 COQ9 John Christodoulou reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 SCN3A Zornitza Stark Tag for review tag was added to gene: SCN3A.
Tag treatable tag was added to gene: SCN3A.
Genomic newborn screening: BabyScreen+ v0.523 SCN2A Zornitza Stark Tag for review tag was added to gene: SCN2A.
Tag treatable tag was added to gene: SCN2A.
Genomic newborn screening: BabyScreen+ v0.523 SCN1A Zornitza Stark Tag for review tag was added to gene: SCN1A.
Genomic newborn screening: BabyScreen+ v0.523 SCN1A Zornitza Stark Tag treatable tag was added to gene: SCN1A.
Genomic newborn screening: BabyScreen+ v0.523 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Genomic newborn screening: BabyScreen+ v0.523 VPS33B Zornitza Stark Gene: vps33b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.522 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
Genomic newborn screening: BabyScreen+ v0.521 VPS33B Zornitza Stark Classified gene: VPS33B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.521 VPS33B Zornitza Stark Gene: vps33b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.520 VPS45 Zornitza Stark Marked gene: VPS45 as ready
Genomic newborn screening: BabyScreen+ v0.520 VPS45 Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.520 VPS45 Zornitza Stark Publications for gene: VPS45 were set to
Genomic newborn screening: BabyScreen+ v0.519 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
Genomic newborn screening: BabyScreen+ v0.519 WAS Zornitza Stark Marked gene: WAS as ready
Genomic newborn screening: BabyScreen+ v0.519 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.519 WAS Zornitza Stark Publications for gene: WAS were set to
Genomic newborn screening: BabyScreen+ v0.518 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Genomic newborn screening: BabyScreen+ v0.518 WDR62 Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.517 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Genomic newborn screening: BabyScreen+ v0.516 WDR62 Zornitza Stark Classified gene: WDR62 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.516 WDR62 Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.515 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Genomic newborn screening: BabyScreen+ v0.515 WFS1 Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.515 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome to Wolfram syndrome MIM#222300
Genomic newborn screening: BabyScreen+ v0.514 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Genomic newborn screening: BabyScreen+ v0.513 WFS1 Zornitza Stark Classified gene: WFS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.513 WFS1 Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.512 WHRN Zornitza Stark Marked gene: WHRN as ready
Genomic newborn screening: BabyScreen+ v0.512 WHRN Zornitza Stark Gene: whrn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.512 WHRN Zornitza Stark reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2D MIM# 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.512 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
Genomic newborn screening: BabyScreen+ v0.512 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.512 WRAP53 Zornitza Stark Classified gene: WRAP53 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.512 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.511 WRN Zornitza Stark Marked gene: WRN as ready
Genomic newborn screening: BabyScreen+ v0.511 WRN Zornitza Stark Gene: wrn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.511 WRN Zornitza Stark Phenotypes for gene: WRN were changed from Werner syndrome to Werner syndrome MIM#277700
Genomic newborn screening: BabyScreen+ v0.510 WRN Zornitza Stark Publications for gene: WRN were set to
Genomic newborn screening: BabyScreen+ v0.509 WRN Zornitza Stark Classified gene: WRN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.509 WRN Zornitza Stark Gene: wrn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Tag treatable tag was added to gene: XIAP.
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Marked gene: XIAP as ready
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Publications for gene: XIAP were set to
Genomic newborn screening: BabyScreen+ v0.507 SCN3A Seb Lunke Marked gene: SCN3A as ready
Genomic newborn screening: BabyScreen+ v0.507 SCN3A Seb Lunke Gene: scn3a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.507 SCN3A Seb Lunke Phenotypes for gene: SCN3A were changed from Developmental and epileptic encephalopathy 62, MIM# 617938 to Epileptic encephalopathy, early infantile, 62, MIM# 617938
Genomic newborn screening: BabyScreen+ v0.506 SCN3A Seb Lunke Publications for gene: SCN3A were set to
Genomic newborn screening: BabyScreen+ v0.505 SCN3A Seb Lunke reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34081427; Phenotypes: Epileptic encephalopathy, early infantile, 62, MIM# 617938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.505 SCN2A Seb Lunke Marked gene: SCN2A as ready
Genomic newborn screening: BabyScreen+ v0.505 SCN2A Seb Lunke Gene: scn2a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.505 SCN2A Seb Lunke changed review comment from: Established gene-disease association. Childhood onset, severe neurological disorder.

Treatment: Phenytoin; high dose carbamazepine

Non-genetic confirmatory test: not available; to: Established gene-disease association.

Childhood onset, severe neurological disorder.

Treatment: Phenytoin; high dose carbamazepine

Non-genetic confirmatory test: not available
Genomic newborn screening: BabyScreen+ v0.505 SCN2A Seb Lunke reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.505 SCN1A Seb Lunke Marked gene: SCN1A as ready
Genomic newborn screening: BabyScreen+ v0.505 SCN1A Seb Lunke Gene: scn1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.505 SCN1A Seb Lunke Phenotypes for gene: SCN1A were changed from Dravet syndrome, MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317 to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317
Genomic newborn screening: BabyScreen+ v0.504 SCN1A Seb Lunke Publications for gene: SCN1A were set to
Genomic newborn screening: BabyScreen+ v0.503 SCN1A Seb Lunke reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301494; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.503 VPS45 Lilian Downie reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30294941, PMID: 32037586, PMID: 23738510; Phenotypes: Neutropenia, severe congenital, 5, MIM# 615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 WAS Lilian Downie reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301357; Phenotypes: Wiskott-Aldrich syndrome MIM#301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.503 WFS1 Lilian Downie reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301750, PMID: 11317350, PMID: 20738327, PMID: 31337416; Phenotypes: Wolfram syndrome MIM#222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 WHRN Lilian Downie commented on gene: WHRN: Definitive gene disease association Usher, moderate evidence it can also cause a non syndromic hearing loss phenotype.
Congenital hearing impairment, childhood onset visual loss
Treatment supportive, clinical trials for retinitis pigmentosa

*I think we should keep hearing loss genes on as it's part of traditional newborn screening*
Genomic newborn screening: BabyScreen+ v0.503 WHRN Lilian Downie reviewed gene: WHRN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:26338283, PMID:22147658, PMID:17171570, PMID:21738389; Phenotypes: Usher syndrome, type 2D MIM# 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.503 WRN Lilian Downie reviewed gene: WRN: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301687; Phenotypes: Werner syndrome MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 XIAP Lilian Downie reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:22228567, 20489057, 17080092, 24942515, 25943627; Phenotypes: Lymphoproliferative syndrome, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.503 GAA Zornitza Stark Marked gene: GAA as ready
Genomic newborn screening: BabyScreen+ v0.503 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.503 GAA Zornitza Stark Phenotypes for gene: GAA were changed from Glycogen storage disease II, MIM#232300 to Glycogen storage disease II, Pompe disease, MIM# 232300
Genomic newborn screening: BabyScreen+ v0.502 GAA Zornitza Stark Tag treatable tag was added to gene: GAA.
Genomic newborn screening: BabyScreen+ v0.502 SBDS Zornitza Stark Tag treatable tag was added to gene: SBDS.
Genomic newborn screening: BabyScreen+ v0.502 SAMHD1 Zornitza Stark Tag treatable tag was added to gene: SAMHD1.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.502 G6PD Zornitza Stark Marked gene: G6PD as ready
Genomic newborn screening: BabyScreen+ v0.502 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.502 GAA Alison Yeung reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease II, Pompe disease, MIM# 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.502 SCN11A Seb Lunke Marked gene: SCN11A as ready
Genomic newborn screening: BabyScreen+ v0.502 SCN11A Seb Lunke Gene: scn11a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.502 SCN11A Seb Lunke Phenotypes for gene: SCN11A were changed from Episodic pain syndrome to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
Genomic newborn screening: BabyScreen+ v0.501 SCN11A Seb Lunke Classified gene: SCN11A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.501 SCN11A Seb Lunke Gene: scn11a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.500 SCN11A Seb Lunke reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.500 SBDS Seb Lunke Marked gene: SBDS as ready
Genomic newborn screening: BabyScreen+ v0.500 SBDS Seb Lunke Gene: sbds has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.500 SBDS Seb Lunke Phenotypes for gene: SBDS were changed from Shwachman-Bodian-Diamond syndrome to Shwachman-Diamond syndrome, MIM# 260400
Genomic newborn screening: BabyScreen+ v0.499 SBDS Seb Lunke Publications for gene: SBDS were set to
Genomic newborn screening: BabyScreen+ v0.498 SBDS Seb Lunke reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22191555, 20301722; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.498 BLNK Zornitza Stark Marked gene: BLNK as ready
Genomic newborn screening: BabyScreen+ v0.498 BLNK Zornitza Stark Gene: blnk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.498 BLNK Zornitza Stark Publications for gene: BLNK were set to
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark Marked gene: C5 as ready
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark Gene: c5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark Tag treatable tag was added to gene: C5.
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C5 deficiency (MIM#609536); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.497 SAMHD1 Seb Lunke Marked gene: SAMHD1 as ready
Genomic newborn screening: BabyScreen+ v0.497 SAMHD1 Seb Lunke Gene: samhd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.497 SAMHD1 Seb Lunke Phenotypes for gene: SAMHD1 were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 5, MIM# 612952
Genomic newborn screening: BabyScreen+ v0.496 SAMHD1 Seb Lunke Publications for gene: SAMHD1 were set to
Genomic newborn screening: BabyScreen+ v0.495 SAMHD1 Seb Lunke reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.495 BSND Zornitza Stark Marked gene: BSND as ready
Genomic newborn screening: BabyScreen+ v0.495 BSND Zornitza Stark Gene: bsnd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.495 BSND Zornitza Stark Phenotypes for gene: BSND were changed from Bartter syndrome with sensorineural deafness to Bartter syndrome, type 4a, MIM# 602522
Genomic newborn screening: BabyScreen+ v0.494 BSND Zornitza Stark Tag treatable tag was added to gene: BSND.
Genomic newborn screening: BabyScreen+ v0.494 BSND Zornitza Stark reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 4a, MIM# 602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.494 SALL1 Seb Lunke Marked gene: SALL1 as ready
Genomic newborn screening: BabyScreen+ v0.494 SALL1 Seb Lunke Gene: sall1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.494 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Genomic newborn screening: BabyScreen+ v0.494 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.494 SALL1 Seb Lunke Phenotypes for gene: SALL1 were changed from Townes-Brocks syndrome to Townes-Brocks syndrome 1, MIM#107480
Genomic newborn screening: BabyScreen+ v0.493 BSCL2 Zornitza Stark Tag for review tag was added to gene: BSCL2.
Tag treatable tag was added to gene: BSCL2.
Genomic newborn screening: BabyScreen+ v0.493 BSCL2 Zornitza Stark edited their review of gene: BSCL2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.493 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 2, MIM# 269700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.493 SALL1 Seb Lunke Classified gene: SALL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.493 SALL1 Seb Lunke Gene: sall1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.492 SALL1 Seb Lunke reviewed gene: SALL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.492 SACS Seb Lunke Marked gene: SACS as ready
Genomic newborn screening: BabyScreen+ v0.492 SACS Seb Lunke Gene: sacs has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.492 SACS Seb Lunke Phenotypes for gene: SACS were changed from Spastic ataxia Charlevoix-Saguenay type to Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Genomic newborn screening: BabyScreen+ v0.491 SACS Seb Lunke Classified gene: SACS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.491 SACS Seb Lunke Gene: sacs has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.490 SACS Seb Lunke reviewed gene: SACS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type MIM#270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.490 G6PD Alison Yeung reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic anemia, G6PD deficient (favism), MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.490 BMPR1A Zornitza Stark Marked gene: BMPR1A as ready
Genomic newborn screening: BabyScreen+ v0.490 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.490 BMPR1A Zornitza Stark Classified gene: BMPR1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.490 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.489 BMPR1A Zornitza Stark Tag for review tag was added to gene: BMPR1A.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.489 BLM Zornitza Stark Marked gene: BLM as ready
Genomic newborn screening: BabyScreen+ v0.489 BLM Zornitza Stark Gene: blm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.489 BLM Zornitza Stark Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, MIM# 210900
Genomic newborn screening: BabyScreen+ v0.488 BLM Zornitza Stark Classified gene: BLM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.488 BLM Zornitza Stark Gene: blm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.487 BLM Zornitza Stark reviewed gene: BLM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.487 ADGRV1 Zornitza Stark Marked gene: ADGRV1 as ready
Genomic newborn screening: BabyScreen+ v0.487 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.487 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from Usher syndrome, type 2C to Usher syndrome, type 2C, MIM# 605472
Genomic newborn screening: BabyScreen+ v0.486 ADGRV1 Zornitza Stark reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2C, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.486 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Genomic newborn screening: BabyScreen+ v0.486 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.486 ACADVL Zornitza Stark Publications for gene: ACADVL were set to
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Genomic newborn screening: BabyScreen+ v0.485 G6PC Alison Yeung reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.485 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Genomic newborn screening: BabyScreen+ v0.485 ACTG1 Zornitza Stark Gene: actg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.485 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from Baraitser-Winter syndrome; Deafness, autosomal dominant to Baraitser-Winter syndrome 2MIM#614583; Deafness, autosomal dominant 20/26 MIM#604717
Genomic newborn screening: BabyScreen+ v0.484 ACTG1 Zornitza Stark Classified gene: ACTG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.484 ACTG1 Zornitza Stark Gene: actg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.483 ACTG1 Zornitza Stark reviewed gene: ACTG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2MIM#614583, Deafness, autosomal dominant 20/26 MIM#604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.483 ACAD8 Zornitza Stark Marked gene: ACAD8 as ready
Genomic newborn screening: BabyScreen+ v0.483 ACAD8 Zornitza Stark Gene: acad8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.483 ACAD8 Zornitza Stark Phenotypes for gene: ACAD8 were changed from Isobutyryl-CoA dehydrogenase deficiency to Isobutyryl-CoA dehydrogenase deficiency MIM#611283
Genomic newborn screening: BabyScreen+ v0.482 ACAD8 Zornitza Stark Classified gene: ACAD8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.482 ACAD8 Zornitza Stark Gene: acad8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.481 ACAD8 Zornitza Stark reviewed gene: ACAD8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Isobutyryl-CoA dehydrogenase deficiency MIM#611283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.481 OSMR Zornitza Stark Marked gene: OSMR as ready
Genomic newborn screening: BabyScreen+ v0.481 OSMR Zornitza Stark Gene: osmr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.481 OSMR Zornitza Stark Phenotypes for gene: OSMR were changed from Amyloidosis, primary cutaneous to Amyloidosis, primary localized cutaneous, 1 - MIM#105250
Genomic newborn screening: BabyScreen+ v0.480 OSMR Zornitza Stark Classified gene: OSMR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.480 OSMR Zornitza Stark Gene: osmr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.479 ORC1 Zornitza Stark Marked gene: ORC1 as ready
Genomic newborn screening: BabyScreen+ v0.479 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.479 ORC1 Zornitza Stark Phenotypes for gene: ORC1 were changed from Meier-Gorlin syndrome to Meier-Gorlin syndrome 1, MIM# 224690
Genomic newborn screening: BabyScreen+ v0.478 ORC1 Zornitza Stark Classified gene: ORC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.478 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.477 ORC1 Zornitza Stark reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.477 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Genomic newborn screening: BabyScreen+ v0.477 OPA1 Zornitza Stark Gene: opa1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.477 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Optic atrophy 1 to Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250
Genomic newborn screening: BabyScreen+ v0.476 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.475 OPA1 Zornitza Stark Classified gene: OPA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.475 OPA1 Zornitza Stark Gene: opa1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.474 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896, Behr syndrome MIM#210000, AR, Optic atrophy 1, MIM#165500, Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.474 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Genomic newborn screening: BabyScreen+ v0.474 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.474 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from Oral-facial-digital syndrome to Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200
Genomic newborn screening: BabyScreen+ v0.473 OFD1 Zornitza Stark Classified gene: OFD1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.473 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.472 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 23, MIM# 300424, Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.472 OCRL Zornitza Stark Marked gene: OCRL as ready
Genomic newborn screening: BabyScreen+ v0.472 OCRL Zornitza Stark Gene: ocrl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.472 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from Lowe oculocerebrorenal syndrome to Dent disease 2, MIM# 300555; Lowe syndrome , MIM#309000
Genomic newborn screening: BabyScreen+ v0.471 OCRL Zornitza Stark Classified gene: OCRL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.471 OCRL Zornitza Stark Gene: ocrl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.470 OCRL Zornitza Stark reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease 2, MIM# 300555, Lowe syndrome , MIM#309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.470 OCA2 Zornitza Stark Marked gene: OCA2 as ready
Genomic newborn screening: BabyScreen+ v0.470 OCA2 Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.470 OCA2 Zornitza Stark Phenotypes for gene: OCA2 were changed from Albinism, oculocutaneous to Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200
Genomic newborn screening: BabyScreen+ v0.469 OCA2 Zornitza Stark Mode of inheritance for gene: OCA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.468 OCA2 Zornitza Stark Classified gene: OCA2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.468 OCA2 Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.467 OCA2 Zornitza Stark reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, brown oculocutaneous, MIM# 203200, Albinism, oculocutaneous, type II, MIM# 203200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.467 OBSL1 Zornitza Stark Marked gene: OBSL1 as ready
Genomic newborn screening: BabyScreen+ v0.467 OBSL1 Zornitza Stark Gene: obsl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.467 OBSL1 Zornitza Stark Phenotypes for gene: OBSL1 were changed from 3-M syndrome to 3-M syndrome 2, MIM #612921
Genomic newborn screening: BabyScreen+ v0.466 OBSL1 Zornitza Stark Classified gene: OBSL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.466 OBSL1 Zornitza Stark Gene: obsl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.465 OBSL1 Zornitza Stark reviewed gene: OBSL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 2, MIM #612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.465 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Genomic newborn screening: BabyScreen+ v0.465 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.465 NTRK1 Zornitza Stark Classified gene: NTRK1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.465 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.464 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Genomic newborn screening: BabyScreen+ v0.464 NSD1 Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.464 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from Sotos syndrome to Sotos syndrome 1, MIM# 117550
Genomic newborn screening: BabyScreen+ v0.463 NSD1 Zornitza Stark Classified gene: NSD1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.463 NSD1 Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.462 NSD1 Zornitza Stark reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome 1, MIM# 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.462 NR5A1 Zornitza Stark Marked gene: NR5A1 as ready
Genomic newborn screening: BabyScreen+ v0.462 NR5A1 Zornitza Stark Gene: nr5a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.462 NR5A1 Zornitza Stark Phenotypes for gene: NR5A1 were changed from 46, XX sex reversal 4, MIM# 617480; 46XY sex reversal 3, MIM# 612965 to Adrenocortical insufficiency, (MIM#612964)
Genomic newborn screening: BabyScreen+ v0.461 NR5A1 Zornitza Stark Tag treatable tag was added to gene: NR5A1.
Genomic newborn screening: BabyScreen+ v0.461 NR5A1 Zornitza Stark reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenocortical insufficiency, (MIM#612964); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.461 NR3C2 Zornitza Stark Marked gene: NR3C2 as ready
Genomic newborn screening: BabyScreen+ v0.461 NR3C2 Zornitza Stark Gene: nr3c2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.461 NR3C2 Zornitza Stark reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.461 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Genomic newborn screening: BabyScreen+ v0.461 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.461 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from Congenital adrenal hypoplasia to Adrenal hypoplasia, congenital (MIM# 300200)
Genomic newborn screening: BabyScreen+ v0.460 NR0B1 Zornitza Stark Tag treatable tag was added to gene: NR0B1.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.460 NPHS1 Zornitza Stark Marked gene: NPHS1 as ready
Genomic newborn screening: BabyScreen+ v0.460 NPHS1 Zornitza Stark Gene: nphs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.460 NPHS1 Zornitza Stark Phenotypes for gene: NPHS1 were changed from Congenital nephrotic syndrome, Finnish type to Nephrotic syndrome, type 1, MIM# 256300
Genomic newborn screening: BabyScreen+ v0.459 NPHS1 Zornitza Stark Classified gene: NPHS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.459 NPHS1 Zornitza Stark Gene: nphs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.458 NPHS1 Zornitza Stark reviewed gene: NPHS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 1, MIM# 256300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.458 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Genomic newborn screening: BabyScreen+ v0.458 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.458 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from Nephronophthisis to Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996
Genomic newborn screening: BabyScreen+ v0.457 NPHP4 Zornitza Stark Classified gene: NPHP4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.457 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.456 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Genomic newborn screening: BabyScreen+ v0.456 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.456 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from Nephronophthisis to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.455 NPHP3 Zornitza Stark Classified gene: NPHP3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.455 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.454 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Genomic newborn screening: BabyScreen+ v0.454 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.453 NPHP1 Zornitza Stark Classified gene: NPHP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.453 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.452 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Genomic newborn screening: BabyScreen+ v0.452 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.452 NPC2 Zornitza Stark Publications for gene: NPC2 were set to
Genomic newborn screening: BabyScreen+ v0.451 NPC2 Zornitza Stark reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann Pick C2, OMIM 607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.451 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Genomic newborn screening: BabyScreen+ v0.451 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.451 NPC1 Zornitza Stark Publications for gene: NPC1 were set to
Genomic newborn screening: BabyScreen+ v0.450 NPC1 Zornitza Stark Tag for review tag was added to gene: NPC1.
Genomic newborn screening: BabyScreen+ v0.450 NPC1 Zornitza Stark reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease, MIM# 257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.450 NOTCH3 Zornitza Stark Marked gene: NOTCH3 as ready
Genomic newborn screening: BabyScreen+ v0.450 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.450 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310
Genomic newborn screening: BabyScreen+ v0.449 NOTCH3 Zornitza Stark Classified gene: NOTCH3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.449 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.448 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.448 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Genomic newborn screening: BabyScreen+ v0.448 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.448 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from Hajdu-Cheney syndrome to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Genomic newborn screening: BabyScreen+ v0.447 NOTCH2 Zornitza Stark Classified gene: NOTCH2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.447 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.446 NOTCH2 Zornitza Stark reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.446 ORC1 David Amor reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.446 NOG Zornitza Stark Marked gene: NOG as ready
Genomic newborn screening: BabyScreen+ v0.446 NOG Zornitza Stark Gene: nog has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.445 NOG Zornitza Stark Classified gene: NOG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.445 NOG Zornitza Stark Gene: nog has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.444 NOG Zornitza Stark edited their review of gene: NOG: Changed rating: RED
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.444 NNT Zornitza Stark Marked gene: NNT as ready
Genomic newborn screening: BabyScreen+ v0.444 NNT Zornitza Stark Gene: nnt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.444 NNT Zornitza Stark Publications for gene: NNT were set to
Genomic newborn screening: BabyScreen+ v0.443 NNT Zornitza Stark Tag treatable tag was added to gene: NNT.
Genomic newborn screening: BabyScreen+ v0.443 NNT Zornitza Stark reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.443 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Genomic newborn screening: BabyScreen+ v0.443 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.442 OPA1 David Amor reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.442 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Genomic newborn screening: BabyScreen+ v0.442 NIPBL Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.442 NIPBL Zornitza Stark Phenotypes for gene: NIPBL were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome 1, MIM# 122470
Genomic newborn screening: BabyScreen+ v0.441 NIPBL Zornitza Stark Classified gene: NIPBL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.441 NIPBL Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.440 NIPBL Zornitza Stark reviewed gene: NIPBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1, MIM# 122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.440 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Genomic newborn screening: BabyScreen+ v0.440 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.440 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from Ichthyosis, autosomal recessive to Ichthyosis, congenital, autosomal recessive 6, MIM# 612281
Genomic newborn screening: BabyScreen+ v0.439 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.438 OFD1 David Amor reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome I; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.438 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Genomic newborn screening: BabyScreen+ v0.438 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.438 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from Myoclonic epilepsy of Lafora to Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780
Genomic newborn screening: BabyScreen+ v0.437 NHLRC1 Zornitza Stark Classified gene: NHLRC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.437 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Tag treatable tag was added to gene: NHEJ1.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.436 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Genomic newborn screening: BabyScreen+ v0.436 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.436 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from Developmental delay, multifocal epilepsy & abnormal liver function to Congenital disorder of deglycosylation, MIM# 615273
Genomic newborn screening: BabyScreen+ v0.435 NGLY1 Zornitza Stark Classified gene: NGLY1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.435 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.434 NGLY1 Zornitza Stark reviewed gene: NGLY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.434 NF2 Zornitza Stark Marked gene: NF2 as ready
Genomic newborn screening: BabyScreen+ v0.434 NF2 Zornitza Stark Gene: nf2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.434 NF2 Zornitza Stark Phenotypes for gene: NF2 were changed from Neurofibromatosis 2 to Neurofibromatosis, type 2 (MIM# 101000)
Genomic newborn screening: BabyScreen+ v0.433 NF2 Zornitza Stark Classified gene: NF2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.433 NF2 Zornitza Stark Gene: nf2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.432 NF1 Zornitza Stark Marked gene: NF1 as ready
Genomic newborn screening: BabyScreen+ v0.432 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.432 NF1 Zornitza Stark Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 to Neurofibromatosis, type 1, MIM# 162200
Genomic newborn screening: BabyScreen+ v0.431 NF1 Zornitza Stark Publications for gene: NF1 were set to
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark Tag treatable tag was added to gene: NEUROG3.
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.430 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Genomic newborn screening: BabyScreen+ v0.430 NEU1 Zornitza Stark Gene: neu1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.430 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from Sialidosis to Sialidosis, type I and type II, MIM# 256550
Genomic newborn screening: BabyScreen+ v0.429 NEU1 Zornitza Stark Classified gene: NEU1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.429 NEU1 Zornitza Stark Gene: neu1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.428 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Genomic newborn screening: BabyScreen+ v0.428 NEK8 Zornitza Stark Gene: nek8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.428 NEK8 Zornitza Stark Classified gene: NEK8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.428 NEK8 Zornitza Stark Gene: nek8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.427 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Genomic newborn screening: BabyScreen+ v0.427 NEK1 Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.427 NEK1 Zornitza Stark Classified gene: NEK1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.427 NEK1 Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.426 NEFL Zornitza Stark Marked gene: NEFL as ready
Genomic newborn screening: BabyScreen+ v0.426 NEFL Zornitza Stark Gene: nefl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.426 NEFL Zornitza Stark Phenotypes for gene: NEFL were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882; Charcot-Marie-Tooth disease, type 1F, MIM# 607734; Charcot-Marie-Tooth disease, type 2E 607684
Genomic newborn screening: BabyScreen+ v0.425 OCRL David Amor reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lowe syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.425 NEFL Zornitza Stark Mode of inheritance for gene: NEFL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.424 NEFL Zornitza Stark Classified gene: NEFL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.424 NEFL Zornitza Stark Gene: nefl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.423 NEFL Zornitza Stark reviewed gene: NEFL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882, Charcot-Marie-Tooth disease, type 1F, MIM# 607734, Charcot-Marie-Tooth disease, type 2E 607684; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.423 NEB Zornitza Stark Marked gene: NEB as ready
Genomic newborn screening: BabyScreen+ v0.423 NEB Zornitza Stark Gene: neb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.422 NEB Zornitza Stark Classified gene: NEB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.422 NEB Zornitza Stark Gene: neb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.421 NDP Zornitza Stark Marked gene: NDP as ready
Genomic newborn screening: BabyScreen+ v0.421 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.421 NDP Zornitza Stark Phenotypes for gene: NDP were changed from Norrie disease to Norrie disease, MIM# 310600
Genomic newborn screening: BabyScreen+ v0.420 NDP Zornitza Stark Classified gene: NDP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.420 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.419 NDP Zornitza Stark reviewed gene: NDP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.419 NCF2 Zornitza Stark Marked gene: NCF2 as ready
Genomic newborn screening: BabyScreen+ v0.419 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.419 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
Genomic newborn screening: BabyScreen+ v0.418 NCF2 Zornitza Stark Tag treatable tag was added to gene: NCF2.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.418 OCA2 David Amor reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.418 NCF1 Zornitza Stark Marked gene: NCF1 as ready
Genomic newborn screening: BabyScreen+ v0.418 NCF1 Zornitza Stark Gene: ncf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.418 NCF1 Zornitza Stark Publications for gene: NCF1 were set to
Genomic newborn screening: BabyScreen+ v0.417 NCF1 Zornitza Stark Tag treatable tag was added to gene: NCF1.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.417 NBN Zornitza Stark Marked gene: NBN as ready
Genomic newborn screening: BabyScreen+ v0.417 NBN Zornitza Stark Gene: nbn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.417 NBN Zornitza Stark Classified gene: NBN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.417 NBN Zornitza Stark Gene: nbn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.416 NBN Zornitza Stark Tag for review tag was added to gene: NBN.
Genomic newborn screening: BabyScreen+ v0.416 NBN Zornitza Stark reviewed gene: NBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome, MIM# 251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark Marked gene: NAGS as ready
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark Tag treatable tag was added to gene: NAGS.
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency - MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.416 OBSL1 David Amor reviewed gene: OBSL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.416 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Genomic newborn screening: BabyScreen+ v0.416 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.416 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from Sanfilippo syndrome type B to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
Genomic newborn screening: BabyScreen+ v0.415 NAGLU Zornitza Stark Tag treatable tag was added to gene: NAGLU.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.415 NAGA Zornitza Stark Marked gene: NAGA as ready
Genomic newborn screening: BabyScreen+ v0.415 NAGA Zornitza Stark Gene: naga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.415 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from N-acetylgalactosaminidase alpha deficiency to Kanzaki disease, MIM# 609242
Genomic newborn screening: BabyScreen+ v0.414 NAGA Zornitza Stark Classified gene: NAGA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.414 NAGA Zornitza Stark Gene: naga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.413 NAGA Zornitza Stark reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kanzaki disease, MIM# 609242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.413 MYO9A Zornitza Stark Marked gene: MYO9A as ready
Genomic newborn screening: BabyScreen+ v0.413 MYO9A Zornitza Stark Gene: myo9a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.413 MYO9A Zornitza Stark Classified gene: MYO9A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.413 MYO9A Zornitza Stark Gene: myo9a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.412 MYO9A Zornitza Stark reviewed gene: MYO9A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic (MIM# 618198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.412 NEU1 David Amor edited their review of gene: NEU1: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.412 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Genomic newborn screening: BabyScreen+ v0.412 MYO7A Zornitza Stark Gene: myo7a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.411 MYO6 Zornitza Stark Marked gene: MYO6 as ready
Genomic newborn screening: BabyScreen+ v0.411 MYO6 Zornitza Stark Gene: myo6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.410 MYO6 Zornitza Stark Mode of inheritance for gene: MYO6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.409 MYO6 Zornitza Stark Tag for review tag was added to gene: MYO6.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.409 MYO3A Zornitza Stark Marked gene: MYO3A as ready
Genomic newborn screening: BabyScreen+ v0.409 MYO3A Zornitza Stark Gene: myo3a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.409 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from Sensorineural hearing loss to Deafness, autosomal recessive 30, MIM:607101
Genomic newborn screening: BabyScreen+ v0.408 MYO3A Zornitza Stark Classified gene: MYO3A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.408 MYO3A Zornitza Stark Gene: myo3a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.407 MYO15A Zornitza Stark Marked gene: MYO15A as ready
Genomic newborn screening: BabyScreen+ v0.407 MYO15A Zornitza Stark Gene: myo15a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.407 MYO15A Zornitza Stark Phenotypes for gene: MYO15A were changed from Sensorineural hearing loss to Deafness, autosomal recessive 3, MIM# 600316
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.406 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Genomic newborn screening: BabyScreen+ v0.406 MYH9 Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.405 MYH9 Zornitza Stark Classified gene: MYH9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.405 MYH9 Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.404 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Genomic newborn screening: BabyScreen+ v0.404 MYH7 Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.404 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.403 MYH7 Zornitza Stark Classified gene: MYH7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.403 MYH7 Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.402 MYH3 Zornitza Stark Marked gene: MYH3 as ready
Genomic newborn screening: BabyScreen+ v0.402 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.401 MYH3 Zornitza Stark Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.400 MYH3 Zornitza Stark Classified gene: MYH3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.400 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.399 MYH2 Zornitza Stark Marked gene: MYH2 as ready
Genomic newborn screening: BabyScreen+ v0.399 MYH2 Zornitza Stark Gene: myh2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.399 MYH2 Zornitza Stark Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia to Proximal myopathy and ophthalmoplegia, MIM# 605637
Genomic newborn screening: BabyScreen+ v0.398 MYH2 Zornitza Stark Classified gene: MYH2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.398 MYH2 Zornitza Stark Gene: myh2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.397 MYH2 Zornitza Stark reviewed gene: MYH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Proximal myopathy and ophthalmoplegia, MIM# 605637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.397 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Genomic newborn screening: BabyScreen+ v0.397 MYH14 Zornitza Stark Gene: myh14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.397 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 4A, MIM# 600652; Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369
Genomic newborn screening: BabyScreen+ v0.396 MYH14 Zornitza Stark Publications for gene: MYH14 were set to
Genomic newborn screening: BabyScreen+ v0.395 MYH14 Zornitza Stark Classified gene: MYH14 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.395 MYH14 Zornitza Stark Gene: myh14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.394 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 4A, MIM# 600652, Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.394 MYCN Zornitza Stark Marked gene: MYCN as ready
Genomic newborn screening: BabyScreen+ v0.394 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.394 MYCN Zornitza Stark Phenotypes for gene: MYCN were changed from Feingold syndrome to Feingold syndrome 1, MIM# 164280
Genomic newborn screening: BabyScreen+ v0.393 MYCN Zornitza Stark Classified gene: MYCN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.393 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.392 MYCN Zornitza Stark reviewed gene: MYCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Feingold syndrome 1, MIM# 164280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.392 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
Genomic newborn screening: BabyScreen+ v0.392 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.392 MYBPC1 Zornitza Stark Classified gene: MYBPC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.392 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.391 MVK Zornitza Stark Marked gene: MVK as ready
Genomic newborn screening: BabyScreen+ v0.391 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.391 MVK Zornitza Stark Phenotypes for gene: MVK were changed from Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377 to Mevalonic aciduria, MIM# 610377
Genomic newborn screening: BabyScreen+ v0.390 MVK Zornitza Stark Publications for gene: MVK were set to
Genomic newborn screening: BabyScreen+ v0.389 MVK Zornitza Stark Tag treatable tag was added to gene: MVK.
Genomic newborn screening: BabyScreen+ v0.389 MVK Zornitza Stark reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria, MIM# 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.389 XPA Zornitza Stark Marked gene: XPA as ready
Genomic newborn screening: BabyScreen+ v0.389 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.389 XPA Zornitza Stark Phenotypes for gene: XPA were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group A MIM#278700
Genomic newborn screening: BabyScreen+ v0.388 XPA Zornitza Stark Tag treatable tag was added to gene: XPA.
Tag clinical trial tag was added to gene: XPA.
Genomic newborn screening: BabyScreen+ v0.388 XPC Zornitza Stark Marked gene: XPC as ready
Genomic newborn screening: BabyScreen+ v0.388 XPC Zornitza Stark Gene: xpc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.388 XPC Zornitza Stark Phenotypes for gene: XPC were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group C MIM#278720
Genomic newborn screening: BabyScreen+ v0.387 XPC Zornitza Stark Publications for gene: XPC were set to
Genomic newborn screening: BabyScreen+ v0.386 XPC Zornitza Stark Tag treatable tag was added to gene: XPC.
Tag clinical trial tag was added to gene: XPC.
Genomic newborn screening: BabyScreen+ v0.386 MUTYH Zornitza Stark Marked gene: MUTYH as ready
Genomic newborn screening: BabyScreen+ v0.386 MUTYH Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.386 MUTYH Zornitza Stark Phenotypes for gene: MUTYH were changed from MUTYH-associated polyposis to Adenomas, multiple colorectal, MIM# 608456
Genomic newborn screening: BabyScreen+ v0.385 MUTYH Zornitza Stark Classified gene: MUTYH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.385 MUTYH Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark Marked gene: MYSM1 as ready
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome 4, MIM#618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark Marked gene: MUSK as ready
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark Tag treatable tag was added to gene: MUSK.
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.384 MTTP Zornitza Stark Marked gene: MTTP as ready
Genomic newborn screening: BabyScreen+ v0.384 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.384 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from Abetalipoproteinaemia to Abetalipoproteinemia, MIM# 200100
Genomic newborn screening: BabyScreen+ v0.383 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Genomic newborn screening: BabyScreen+ v0.383 MTTP Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.383 MTRR Zornitza Stark Marked gene: MTRR as ready
Genomic newborn screening: BabyScreen+ v0.383 MTRR Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.383 MTRR Zornitza Stark Publications for gene: MTRR were set to
Genomic newborn screening: BabyScreen+ v0.382 MTRR Zornitza Stark reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.382 MSX2 Zornitza Stark Marked gene: MSX2 as ready
Genomic newborn screening: BabyScreen+ v0.382 MSX2 Zornitza Stark Gene: msx2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.381 MSX2 Zornitza Stark Classified gene: MSX2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.381 MSX2 Zornitza Stark Gene: msx2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark Marked gene: MRAP as ready
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark Gene: mrap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark Tag treatable tag was added to gene: MRAP.
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 2, MIM# 607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.380 MTR Zornitza Stark Marked gene: MTR as ready
Genomic newborn screening: BabyScreen+ v0.380 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.380 MTR Zornitza Stark Phenotypes for gene: MTR were changed from Methylmalonic aciduria and homocystinuria, MIM#250940 to Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940
Genomic newborn screening: BabyScreen+ v0.379 MTR Zornitza Stark Publications for gene: MTR were set to
Genomic newborn screening: BabyScreen+ v0.378 MTR Zornitza Stark reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.378 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Genomic newborn screening: BabyScreen+ v0.378 MTM1 Zornitza Stark Gene: mtm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.378 MTM1 Zornitza Stark Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked to Myopathy, centronuclear, X-linked, MIM# 310400
Genomic newborn screening: BabyScreen+ v0.377 MTM1 Zornitza Stark Classified gene: MTM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.377 MTM1 Zornitza Stark Gene: mtm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.376 MTM1 Zornitza Stark reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, centronuclear, X-linked, MIM# 310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.376 MPZ Zornitza Stark Marked gene: MPZ as ready
Genomic newborn screening: BabyScreen+ v0.376 MPZ Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.376 MPZ Zornitza Stark Phenotypes for gene: MPZ were changed from Charcot-Marie-Tooth disease to Charcot Marie Tooth disease, dominant intermediate D, 60779; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677
Genomic newborn screening: BabyScreen+ v0.375 MPZ Zornitza Stark Mode of inheritance for gene: MPZ was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.374 MPZ Zornitza Stark Classified gene: MPZ as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.374 MPZ Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.373 MPZ Zornitza Stark reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot Marie Tooth disease, dominant intermediate D, 60779, Neuropathy, congenital hypomyelinating, 605253, Charcot Marie Tooth disease, type 2J, 607736, Dejerine Sottas disease, 145900, Charcot Marie Tooth disease, type 1B, 118200, Charcot Marie Tooth disease, type 2I, 607677; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.373 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Genomic newborn screening: BabyScreen+ v0.373 MPV17 Zornitza Stark Gene: mpv17 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.373 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome, hepatic to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Genomic newborn screening: BabyScreen+ v0.372 MPV17 Zornitza Stark Classified gene: MPV17 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.372 MPV17 Zornitza Stark Gene: mpv17 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.371 MPV17 Zornitza Stark reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Tag treatable tag was added to gene: MPL.
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Marked gene: MPL as ready
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Phenotypes for gene: MPL were changed from Thrombocytopaenia, congenital amegakaryocytic, MIM# 604498 to Thrombocytopenia, congenital amegakaryocytic, MIM# 604498
Genomic newborn screening: BabyScreen+ v0.370 MPL Zornitza Stark Phenotypes for gene: MPL were changed from Amegakaryocytic thrombocytopaenia, congenital to Thrombocytopaenia, congenital amegakaryocytic, MIM# 604498
Genomic newborn screening: BabyScreen+ v0.369 MPL Zornitza Stark Publications for gene: MPL were set to
Genomic newborn screening: BabyScreen+ v0.368 MPL Zornitza Stark reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, congenital amegakaryocytic, MIM# 604498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.368 MPI Zornitza Stark Marked gene: MPI as ready
Genomic newborn screening: BabyScreen+ v0.368 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.368 MPI Zornitza Stark Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation 1b to Congenital disorder of glycosylation, type Ib, MIM# 602579
Genomic newborn screening: BabyScreen+ v0.367 MPI Zornitza Stark Publications for gene: MPI were set to
Genomic newborn screening: BabyScreen+ v0.366 MPI Zornitza Stark reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark Classified gene: MPDU1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.365 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
Genomic newborn screening: BabyScreen+ v0.365 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.365 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from Molybdenum cofactor deficiency to Molybdenum cofactor deficiency B, MIM#252160
Genomic newborn screening: BabyScreen+ v0.364 MOCS2 Zornitza Stark Classified gene: MOCS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.364 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.363 MOCS2 Zornitza Stark reviewed gene: MOCS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency B MIM#252160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.363 MOCS1 Zornitza Stark Marked gene: MOCS1 as ready
Genomic newborn screening: BabyScreen+ v0.363 MOCS1 Zornitza Stark Gene: mocs1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.363 MOCS1 Zornitza Stark Publications for gene: MOCS1 were set to
Genomic newborn screening: BabyScreen+ v0.362 MOCS1 Zornitza Stark reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.362 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from Malonyl-CoA decarboxylase deficiency to Malonyl-CoA decarboxylase deficiency, MIM# 248360
Genomic newborn screening: BabyScreen+ v0.361 MLYCD Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.361 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Genomic newborn screening: BabyScreen+ v0.361 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.361 ZAP70 Zornitza Stark Phenotypes for gene: ZAP70 were changed from ZAP70-related severe combined immunodeficiency to Immunodeficiency MIM#176947
Genomic newborn screening: BabyScreen+ v0.360 ZAP70 Zornitza Stark Publications for gene: ZAP70 were set to
Genomic newborn screening: BabyScreen+ v0.359 ZAP70 Zornitza Stark Tag treatable tag was added to gene: ZAP70.
Genomic newborn screening: BabyScreen+ v0.359 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Genomic newborn screening: BabyScreen+ v0.359 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.359 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome to Mowat-Wilson syndrome MIM# 235730
Genomic newborn screening: BabyScreen+ v0.358 ZEB2 Zornitza Stark Publications for gene: ZEB2 were set to
Genomic newborn screening: BabyScreen+ v0.357 ZEB2 Zornitza Stark Classified gene: ZEB2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.357 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.356 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Genomic newborn screening: BabyScreen+ v0.356 ZIC2 Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.356 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from Holoprosencephaly-5 to Holoprosencephaly MIM#603073
Genomic newborn screening: BabyScreen+ v0.355 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to
Genomic newborn screening: BabyScreen+ v0.354 ZIC2 Zornitza Stark Classified gene: ZIC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.354 ZIC2 Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.353 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Genomic newborn screening: BabyScreen+ v0.353 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.353 ZIC3 Zornitza Stark Phenotypes for gene: ZIC3 were changed from Heterotaxy to X linked heterotaxy and congenital heart defects MIM:306955
Genomic newborn screening: BabyScreen+ v0.352 ZIC3 Zornitza Stark Publications for gene: ZIC3 were set to
Genomic newborn screening: BabyScreen+ v0.351 ZIC3 Zornitza Stark Classified gene: ZIC3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.351 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.350 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Genomic newborn screening: BabyScreen+ v0.350 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.350 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from Restrictive dermopathy to Restrictive dermopathy 1, MIM# MIM:275210
Genomic newborn screening: BabyScreen+ v0.349 ZMPSTE24 Zornitza Stark Publications for gene: ZMPSTE24 were set to
Genomic newborn screening: BabyScreen+ v0.348 ZMPSTE24 Zornitza Stark Classified gene: ZMPSTE24 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.348 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.347 ZMPSTE24 Zornitza Stark reviewed gene: ZMPSTE24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Restrictive dermopathy 1, MIM# MIM:275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.347 ZNF469 Zornitza Stark Marked gene: ZNF469 as ready
Genomic newborn screening: BabyScreen+ v0.347 ZNF469 Zornitza Stark Gene: znf469 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.347 ZNF469 Zornitza Stark Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome to Brittle cornea syndrome MIM#229200
Genomic newborn screening: BabyScreen+ v0.346 ZNF469 Zornitza Stark Publications for gene: ZNF469 were set to
Genomic newborn screening: BabyScreen+ v0.345 ZNF469 Zornitza Stark Classified gene: ZNF469 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.345 ZNF469 Zornitza Stark Gene: znf469 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.344 MLC1 Zornitza Stark Marked gene: MLC1 as ready
Genomic newborn screening: BabyScreen+ v0.344 MLC1 Zornitza Stark Gene: mlc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.344 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from Megalencephalic leukoencephalopathy to Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004
Genomic newborn screening: BabyScreen+ v0.343 MLC1 Zornitza Stark Classified gene: MLC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.343 MLC1 Zornitza Stark Gene: mlc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.342 MLC1 Zornitza Stark reviewed gene: MLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.342 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Genomic newborn screening: BabyScreen+ v0.342 MKS1 Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.342 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from Meckel syndrome to Joubert syndrome 28, MIM# 617121 MONDO:0014928; Meckel syndrome 1, MIM# 249000 MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441
Genomic newborn screening: BabyScreen+ v0.341 MKS1 Zornitza Stark Classified gene: MKS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.341 MKS1 Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.340 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 28, MIM# 617121 MONDO:0014928, Meckel syndrome 1, MIM# 249000 MONDO:0009571, Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.340 MKKS Zornitza Stark Marked gene: MKKS as ready
Genomic newborn screening: BabyScreen+ v0.340 MKKS Zornitza Stark Gene: mkks has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.339 MKKS Zornitza Stark Classified gene: MKKS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.339 MKKS Zornitza Stark Gene: mkks has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.338 LAMB3 Zornitza Stark Marked gene: LAMB3 as ready
Genomic newborn screening: BabyScreen+ v0.338 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.337 LAMB3 Zornitza Stark Mode of inheritance for gene: LAMB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.336 LAMB3 Zornitza Stark Classified gene: LAMB3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.336 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.335 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Genomic newborn screening: BabyScreen+ v0.335 LAMA2 Zornitza Stark Gene: lama2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.334 LAMA2 Zornitza Stark Classified gene: LAMA2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.334 LAMA2 Zornitza Stark Gene: lama2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.333 MITF Zornitza Stark Marked gene: MITF as ready
Genomic newborn screening: BabyScreen+ v0.333 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.333 MITF Zornitza Stark Phenotypes for gene: MITF were changed from Waardenburg syndrome to Waardenburg syndrome, type 2A, MIM# 193510; Deafness
Genomic newborn screening: BabyScreen+ v0.332 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.331 MITF Zornitza Stark reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 2A, MIM# 193510, Deafness; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.331 MGP Zornitza Stark Marked gene: MGP as ready
Genomic newborn screening: BabyScreen+ v0.331 MGP Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.331 MGP Zornitza Stark Phenotypes for gene: MGP were changed from Keutel syndrome to Keutel syndrome, MIM #245150
Genomic newborn screening: BabyScreen+ v0.330 MGP Zornitza Stark Classified gene: MGP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.330 MGP Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.329 MGP Zornitza Stark reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome, MIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.329 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Genomic newborn screening: BabyScreen+ v0.329 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.329 MGAT2 Zornitza Stark Classified gene: MGAT2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.329 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.328 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.328 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Genomic newborn screening: BabyScreen+ v0.328 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.328 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951
Genomic newborn screening: BabyScreen+ v0.327 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Genomic newborn screening: BabyScreen+ v0.326 MFSD8 Zornitza Stark Classified gene: MFSD8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.326 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.325 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Genomic newborn screening: BabyScreen+ v0.325 MFN2 Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.325 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152
Genomic newborn screening: BabyScreen+ v0.324 MFN2 Zornitza Stark Mode of inheritance for gene: MFN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.323 MFN2 Zornitza Stark Classified gene: MFN2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.323 MFN2 Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.322 MFN2 Zornitza Stark reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087, Hereditary motor and sensory neuropathy VIA, OMIM #601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.322 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Genomic newborn screening: BabyScreen+ v0.322 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.322 MEN1 Zornitza Stark Phenotypes for gene: MEN1 were changed from Multiple endocrine neoplasia I to Multiple endocrine neoplasia 1, MIM#131100
Genomic newborn screening: BabyScreen+ v0.321 MEN1 Zornitza Stark Tag for review tag was added to gene: MEN1.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.321 MEGF10 Zornitza Stark Marked gene: MEGF10 as ready
Genomic newborn screening: BabyScreen+ v0.321 MEGF10 Zornitza Stark Gene: megf10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.321 MEGF10 Zornitza Stark Phenotypes for gene: MEGF10 were changed from Myopathy, areflexia, respiratory distress, and dysphagia, early-onset to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399
Genomic newborn screening: BabyScreen+ v0.320 MEGF10 Zornitza Stark Classified gene: MEGF10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.320 MEGF10 Zornitza Stark Gene: megf10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.319 MEGF10 Zornitza Stark reviewed gene: MEGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.319 MEFV Zornitza Stark Marked gene: MEFV as ready
Genomic newborn screening: BabyScreen+ v0.319 MEFV Zornitza Stark Gene: mefv has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.319 MEFV Zornitza Stark Phenotypes for gene: MEFV were changed from Mediterranean fever, familial to Familial Mediterranean fever MIM# 249100
Genomic newborn screening: BabyScreen+ v0.318 MEFV Zornitza Stark Tag for review tag was added to gene: MEFV.
Genomic newborn screening: BabyScreen+ v0.318 MEFV Zornitza Stark reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever MIM# 249100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.318 MED25 Zornitza Stark Marked gene: MED25 as ready
Genomic newborn screening: BabyScreen+ v0.318 MED25 Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.318 MED25 Zornitza Stark Classified gene: MED25 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.318 MED25 Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.317 MED25 Zornitza Stark reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.317 MED12 Zornitza Stark Marked gene: MED12 as ready
Genomic newborn screening: BabyScreen+ v0.317 MED12 Zornitza Stark Gene: med12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.317 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Intellectual disability to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, MIM# 301068
Genomic newborn screening: BabyScreen+ v0.316 MED12 Zornitza Stark Classified gene: MED12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.316 MED12 Zornitza Stark Gene: med12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.315 MED12 Zornitza Stark reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ohdo syndrome, X-linked MIM#300895, Lujan-Fryns syndrome MIM#309520, Opitz-Kaveggia syndrome MIM#305450, Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.315 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Genomic newborn screening: BabyScreen+ v0.315 MECP2 Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.315 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from Rett syndrome to MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055
Genomic newborn screening: BabyScreen+ v0.314 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.313 MECP2 Zornitza Stark Classified gene: MECP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.313 MECP2 Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.312 MECP2 Zornitza Stark reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.312 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Genomic newborn screening: BabyScreen+ v0.312 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.311 MCPH1 Zornitza Stark Classified gene: MCPH1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.311 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark Marked gene: COQ8B as ready
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark Tag for review tag was added to gene: COQ8B.
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 9 MIM#615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.310 COQ8A Zornitza Stark Marked gene: COQ8A as ready
Genomic newborn screening: BabyScreen+ v0.310 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.310 COQ8A Zornitza Stark Publications for gene: COQ8A were set to
Genomic newborn screening: BabyScreen+ v0.309 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Genomic newborn screening: BabyScreen+ v0.309 COQ8A Zornitza Stark reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32337771; Phenotypes: Coenzyme Q10 deficiency, primary, 4 MIM#612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark Marked gene: COQ7 as ready
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark Tag for review tag was added to gene: COQ7.
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 8 MIM#616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark Marked gene: COLQ as ready
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark Gene: colq has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark Tag treatable tag was added to gene: COLQ.
Tag clinical trial tag was added to gene: COLQ.
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.308 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Genomic newborn screening: BabyScreen+ v0.308 CLN8 Zornitza Stark Gene: cln8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.307 CLN8 Zornitza Stark Publications for gene: CLN8 were set to
Genomic newborn screening: BabyScreen+ v0.306 CLN8 Zornitza Stark Classified gene: CLN8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.306 CLN8 Zornitza Stark Gene: cln8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.305 CLN6 Zornitza Stark Marked gene: CLN6 as ready
Genomic newborn screening: BabyScreen+ v0.305 CLN6 Zornitza Stark Gene: cln6 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.305 CLN6 Zornitza Stark Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780
Genomic newborn screening: BabyScreen+ v0.304 CLN6 Zornitza Stark Publications for gene: CLN6 were set to
Genomic newborn screening: BabyScreen+ v0.303 CLN6 Zornitza Stark Classified gene: CLN6 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.303 CLN6 Zornitza Stark Gene: cln6 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.302 CLN6 Zornitza Stark Tag for review tag was added to gene: CLN6.
Tag clinical trial tag was added to gene: CLN6.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.302 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Genomic newborn screening: BabyScreen+ v0.302 CLN5 Zornitza Stark Gene: cln5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.301 CLN5 Zornitza Stark Classified gene: CLN5 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.301 CLN5 Zornitza Stark Gene: cln5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.300 CLN5 Zornitza Stark Tag for review tag was added to gene: CLN5.
Tag clinical trial tag was added to gene: CLN5.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.300 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Genomic newborn screening: BabyScreen+ v0.300 CLN3 Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.300 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
Genomic newborn screening: BabyScreen+ v0.299 CLN3 Zornitza Stark Classified gene: CLN3 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.299 CLN3 Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.298 CLN3 Zornitza Stark Tag for review tag was added to gene: CLN3.
Tag clinical trial tag was added to gene: CLN3.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.298 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Genomic newborn screening: BabyScreen+ v0.298 CHRNG Zornitza Stark Gene: chrng has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.298 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from Pterygium syndrome to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290
Genomic newborn screening: BabyScreen+ v0.297 CHRNG Zornitza Stark Classified gene: CHRNG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.297 CHRNG Zornitza Stark Gene: chrng has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.296 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.296 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Genomic newborn screening: BabyScreen+ v0.296 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.296 CHRNE Zornitza Stark Phenotypes for gene: CHRNE were changed from Congenital myasthenic syndrome, MIM#605809 to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809
Genomic newborn screening: BabyScreen+ v0.295 CHRNE Zornitza Stark changed review comment from: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported.

Severe disorder, congenital.; to: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported.

Severe disorder, congenital.

Treatment available.
Genomic newborn screening: BabyScreen+ v0.295 CHRNE Zornitza Stark reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Myasthenic syndrome, slow-channel congenital, 601462, Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.295 CHRND Zornitza Stark Marked gene: CHRND as ready
Genomic newborn screening: BabyScreen+ v0.295 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.295 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from Congenital myasthenic syndrome, MIM#616321 to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Genomic newborn screening: BabyScreen+ v0.294 CHRND Zornitza Stark Publications for gene: CHRND were set to
Genomic newborn screening: BabyScreen+ v0.293 CHRND Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 30808424; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.293 SLC5A2 Zornitza Stark Marked gene: SLC5A2 as ready
Genomic newborn screening: BabyScreen+ v0.293 SLC5A2 Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.293 SLC5A2 Zornitza Stark Phenotypes for gene: SLC5A2 were changed from Renal glucosuria to Renal glucosuria, MIM# 233100
Genomic newborn screening: BabyScreen+ v0.292 SLC5A2 Zornitza Stark Mode of inheritance for gene: SLC5A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.291 SLC5A2 Zornitza Stark Classified gene: SLC5A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.291 SLC5A2 Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.290 SLC5A2 Zornitza Stark reviewed gene: SLC5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, MIM# 233100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.290 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Genomic newborn screening: BabyScreen+ v0.290 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.290 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from Congenital myasthenic syndrome, MIM#601462 to Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Genomic newborn screening: BabyScreen+ v0.289 CHRNA1 Zornitza Stark Publications for gene: CHRNA1 were set to
Genomic newborn screening: BabyScreen+ v0.288 CHRNA1 Zornitza Stark edited their review of gene: CHRNA1: Changed publications: 30808424
Genomic newborn screening: BabyScreen+ v0.288 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Genomic newborn screening: BabyScreen+ v0.288 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668, Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark Marked gene: CHAT as ready
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark Gene: chat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark Marked gene: CA5A as ready
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark Tag treatable tag was added to gene: CA5A.
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark changed review comment from: Well established gene-disease association.

Childhood onset.

Treatable with IVIG.; to: Well established gene-disease association with isolated agammaglobulinaemia. At least 3 families reported with associated GH deficiency, which is also treatable.

Childhood onset.

Treatable with IVIG.
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark edited their review of gene: BTK: Changed phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755, Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark Marked gene: BTK as ready
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark Tag treatable tag was added to gene: BTK.
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark commented on gene: BTK: Well established gene-disease association.

Childhood onset.

Treatable with IVIG.
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.288 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Genomic newborn screening: BabyScreen+ v0.288 BCS1L Zornitza Stark Gene: bcs1l has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.288 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from Complex 3 deficiency to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
Genomic newborn screening: BabyScreen+ v0.287 BCS1L Zornitza Stark Classified gene: BCS1L as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.287 BCS1L Zornitza Stark Gene: bcs1l has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.286 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark Marked gene: BCKDK as ready
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark Tag treatable tag was added to gene: BCKDK.
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark commented on gene: BCKDK: Confirmatory non-genetic testing: serum amino acids, urine organic acids
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.286 BCHE Zornitza Stark Tag for review tag was added to gene: BCHE.
Genomic newborn screening: BabyScreen+ v0.286 BCHE Zornitza Stark reviewed gene: BCHE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Butyrylcholinesterase deficiency, MIM# 617936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.286 AUH Zornitza Stark Marked gene: AUH as ready
Genomic newborn screening: BabyScreen+ v0.286 AUH Zornitza Stark Gene: auh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.286 AUH Zornitza Stark Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I to 3-methylglutaconic aciduria, type I , MIM#250950
Genomic newborn screening: BabyScreen+ v0.285 AUH Zornitza Stark Classified gene: AUH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.285 AUH Zornitza Stark Gene: auh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.284 AUH Zornitza Stark reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.284 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Genomic newborn screening: BabyScreen+ v0.284 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.284 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV to Mucolipidosis IV, MIM# 252650
Genomic newborn screening: BabyScreen+ v0.283 MCOLN1 Zornitza Stark Classified gene: MCOLN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.283 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.282 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Genomic newborn screening: BabyScreen+ v0.282 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.282 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from Wilson disease to Wilson disease MIM#277900
Genomic newborn screening: BabyScreen+ v0.281 ATP7B Zornitza Stark Tag for review tag was added to gene: ATP7B.
Genomic newborn screening: BabyScreen+ v0.281 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease MIM#277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark Marked gene: ASL as ready
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininosuccinic aciduria MIM#207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.281 ARSB Zornitza Stark Marked gene: ARSB as ready
Genomic newborn screening: BabyScreen+ v0.281 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.281 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) to Mucopolysaccharidosis VI (MPS6, MIM# 253200
Genomic newborn screening: BabyScreen+ v0.280 ARSB Zornitza Stark Publications for gene: ARSB were set to
Genomic newborn screening: BabyScreen+ v0.279 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.279 AHCY Zornitza Stark Marked gene: AHCY as ready
Genomic newborn screening: BabyScreen+ v0.279 AHCY Zornitza Stark Gene: ahcy has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.279 AHCY Zornitza Stark Mode of inheritance for gene: AHCY was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.278 AHCY Zornitza Stark Tag treatable tag was added to gene: AHCY.
Genomic newborn screening: BabyScreen+ v0.278 AHCY Zornitza Stark reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.278 AGL Zornitza Stark Marked gene: AGL as ready
Genomic newborn screening: BabyScreen+ v0.278 AGL Zornitza Stark Gene: agl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.278 AGL Zornitza Stark Publications for gene: AGL were set to
Genomic newborn screening: BabyScreen+ v0.277 AGL Zornitza Stark edited their review of gene: AGL: Changed publications: 20631546, 27106217
Genomic newborn screening: BabyScreen+ v0.277 AGL Zornitza Stark reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20631546; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.277 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Genomic newborn screening: BabyScreen+ v0.277 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.277 SMN1 Zornitza Stark Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy type 1, 253300; Spinal muscular atrophy type 2, 253550; Spinal muscular atrophy type 3, 253400 to Spinal muscular atrophy type 1, MIM#253300
Genomic newborn screening: BabyScreen+ v0.276 SMN1 Zornitza Stark Tag for review tag was added to gene: SMN1.
Tag treatable tag was added to gene: SMN1.
Tag clinical trial tag was added to gene: SMN1.
Genomic newborn screening: BabyScreen+ v0.276 SMN1 Zornitza Stark reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.276 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Genomic newborn screening: BabyScreen+ v0.276 ACADVL Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31372341, 32885845; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark Marked gene: GALE as ready
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark Tag treatable tag was added to gene: GALE.
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactose epimerase deficiency MIM#230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark Marked gene: GALK1 as ready
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark Tag treatable tag was added to gene: GALK1.
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark Marked gene: GALT as ready
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia, MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.276 TAT Zornitza Stark Marked gene: TAT as ready
Genomic newborn screening: BabyScreen+ v0.276 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.276 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.276 PCCB Zornitza Stark Marked gene: PCCB as ready
Genomic newborn screening: BabyScreen+ v0.276 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.276 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from Propionicacidemia to Propionicacidaemia, MIM#606054
Genomic newborn screening: BabyScreen+ v0.275 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Genomic newborn screening: BabyScreen+ v0.275 PCCB Zornitza Stark reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionicacidaemia, MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark Marked gene: PCCA as ready
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionic acidaemia, MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark Tag for review tag was added to gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D , MIM#264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark Marked gene: QDPR as ready
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark Marked gene: PTS as ready
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark Marked gene: PAH as ready
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phenylketonuria MIM#261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark Marked gene: ETFB as ready
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark Tag for review tag was added to gene: ETFB.
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 ETFA Zornitza Stark Marked gene: ETFA as ready
Genomic newborn screening: BabyScreen+ v0.275 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 ETFA Zornitza Stark Publications for gene: ETFA were set to
Genomic newborn screening: BabyScreen+ v0.274 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 ETFA Zornitza Stark edited their review of gene: ETFA: Changed publications: 31904027
Genomic newborn screening: BabyScreen+ v0.274 ETFA Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 NSD1 David Amor reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NR5A1 David Amor reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenocortical insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NR3C2 David Amor reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: NR3C2 associated pseudohypoaldosteronism, type I; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 NPHS1 David Amor reviewed gene: NPHS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 NPC2 David Amor reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568; Phenotypes: Niemann-pick disease, type C2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NPC1 David Amor reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568; Phenotypes: Niemann-Pick disease, type C, NPC1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 NOTCH2 David Amor reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hajdu-Cheney syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 NNT David Amor reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26548497; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 NIPBL David Amor reviewed gene: NIPBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 NGLY1 David Amor reviewed gene: NGLY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 1 (NGLY1-Related Congenital Disorder of Deglycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 NEUROG3 David Amor reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36149814; Phenotypes: NEUROG3 associated syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NEU1 David Amor reviewed gene: NEU1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 NEFL David Amor reviewed gene: NEFL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, Charcot-Marie-Tooth disease, type 1F, Charcot-Marie-Tooth disease, type 2E; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 NDP David Amor reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.274 NCF2 David Amor reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27178966; Phenotypes: NCF2 associated chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NCF1 David Amor reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27178966; Phenotypes: NCF1 associated chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NBN David Amor reviewed gene: NBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NAGS David Amor reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 NAGA David Amor reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kanzaki disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYO9A David Amor reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYO7A David Amor reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 MYH7 David Amor reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Various myopathies and cardiomyopathies; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 MYH2 David Amor reviewed gene: MYH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Proximal myopathy and ophthalmoplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYH14 David Amor reviewed gene: MYH14: Rating: ; Mode of pathogenicity: None; Publications: PMID: 34681017; Phenotypes: Deafness, autosomal dominant 4A; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 MYCN David Amor reviewed gene: MYCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 MVK David Amor reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32066461; Phenotypes: Hyper-IgD syndrome / mevalonate kinase deficiciency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 XPA Lilian Downie reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A MIM#278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 XPC Lilian Downie edited their review of gene: XPC: Changed publications: PMID: 26255934
Genomic newborn screening: BabyScreen+ v0.274 XPC Lilian Downie reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22044607, PMID: 32918226; Phenotypes: Xeroderma pigmentosum, group C MIM#278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 MYSM1 David Amor reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MUSK David Amor reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenic syndrome-9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MTTP David Amor reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MTRR David Amor reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25526710; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.274 MRAP David Amor reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30817990; Phenotypes: Glucocorticoid deficiency 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MTM1 David Amor edited their review of gene: MTM1: Changed phenotypes: X-linked myotubular myopathy
Genomic newborn screening: BabyScreen+ v0.274 MTR David Amor reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25526710; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MTM1 David Amor reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.274 MPZ David Amor reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CMT1B (AD), Dejerine-Sottas disease (AR); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MPV17 David Amor reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MPL David Amor reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32703794; Phenotypes: Congenital amegakaryocytic thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MPI David Amor reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32266963, 19101627; Phenotypes: Congenital disorder of glycosylation 1b; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.274 MPDU1 David Amor reviewed gene: MPDU1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MOCS2 David Amor reviewed gene: MOCS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: molybdenum cofactor deficiency B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MOCS1 David Amor reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20385644, PMID: 26343839; Phenotypes: molybdenum cofactor deficiency A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MLYCD David Amor reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malonyl-CoA decarboxylase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 ZAP70 Lilian Downie reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301777; Phenotypes: Immunodeficiency MIM#176947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 ZEB2 Lilian Downie reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301585; Phenotypes: Mowat-Wilson syndrome MIM# 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 ZIC2 Lilian Downie reviewed gene: ZIC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29442327; Phenotypes: holoprosencephaly MIM#603073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 ZIC3 Lilian Downie reviewed gene: ZIC3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29442328, PMID: 27406248; Phenotypes: X linked heterotaxy and congenital heart defects MIM:306955; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.274 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Genomic newborn screening: BabyScreen+ v0.274 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.274 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from Glutaric acidemia IIC, MIM#231680 to Glutaric acidemia IIC, MIM#231680
Genomic newborn screening: BabyScreen+ v0.273 ETFDH Zornitza Stark Publications for gene: ETFDH were set to
Genomic newborn screening: BabyScreen+ v0.272 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Genomic newborn screening: BabyScreen+ v0.272 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark Marked gene: HADHB as ready
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.272 HADHA Zornitza Stark Marked gene: HADHA as ready
Genomic newborn screening: BabyScreen+ v0.272 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.272 HADHA Zornitza Stark Publications for gene: HADHA were set to
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.271 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Genomic newborn screening: BabyScreen+ v0.271 HADHA Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30029694; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.271 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.271 MMAA Zornitza Stark Marked gene: MMAA as ready
Genomic newborn screening: BabyScreen+ v0.271 MMAA Zornitza Stark Gene: mmaa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.271 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.271 MUT Zornitza Stark Marked gene: MUT as ready
Genomic newborn screening: BabyScreen+ v0.271 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.271 MUT Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria, mut(0) type, MIM# 251000; Methylmalonic aciduria, mut(0) type to Methylmalonic aciduria, mut(0) type, MIM# 251000
Genomic newborn screening: BabyScreen+ v0.270 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Genomic newborn screening: BabyScreen+ v0.270 MUT Zornitza Stark reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark Marked gene: ACADM as ready
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 ZMPSTE24 Lilian Downie reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28050601; Phenotypes: Restrictive dermopathy 1 MIM:275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 ZNF469 Lilian Downie changed review comment from: Well established gene-disease association.

Severe, causes blindness in the majority in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture.

Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success; to: Well established gene-disease association.

Severe, causes blindness in the majority in early childhood but variable. Corneal thinning. Connective tissue disease spectrum, can have systemic features. Ocular rupture causes blindness.

Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success
Genomic newborn screening: BabyScreen+ v0.270 ZNF469 Lilian Downie changed review comment from: Well established gene-disease association.

Severe, can cause blindness in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture.

Treatment: no, only lifestyle modification (rupture can occur from minor trauma) and protective eyewear.; to: Well established gene-disease association.

Severe, causes blindness in the majority in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture.

Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success
Genomic newborn screening: BabyScreen+ v0.270 ZNF469 Lilian Downie reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31496642; Phenotypes: Brittle cornea syndrome 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MLC1 David Amor reviewed gene: MLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: megalencephalic leukoencephalopathy with subcortical cysts-1 (MLC1); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MKS1 David Amor reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.270 LAMB3 David Amor edited their review of gene: LAMB3: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.270 LAMB3 David Amor changed review comment from: Gene-disease association: well established

Age of onset: congenital

Treatment: non specific but early detection may be beneficial; to: Gene-disease association: well established

Age of onset: congenital

Treatment: non specific but early detection may be beneficial
Genomic newborn screening: BabyScreen+ v0.270 LAMA2 David Amor edited their review of gene: LAMA2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.270 MITF David Amor reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wardenburg syndrome type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.270 MGP David Amor reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MGAT2 David Amor reviewed gene: MGAT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CDG-IIa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.270 MFN2 David Amor reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth Neuropathy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.270 MEGF10 David Amor reviewed gene: MEGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MEFV David Amor reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial mediteranean fever; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MED25 David Amor reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagaite-Smirin-Yosef Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MED12 David Amor reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FG syndrome, intellectual disability, Lujan syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.270 MECP2 David Amor reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett 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)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.270 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Genomic newborn screening: BabyScreen+ v0.270 IVD Zornitza Stark reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Isovaleric acidaemia, MIM# 243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark changed review comment from: Well established gene-disease association.

Variable severity and age of presentation, predominantly with cutaneous and neurologic abnormalities

Treatment: biotin

Non-genetic confirmatory testing: biotinidase enzyme activity in serum or plasma; to: Well established gene-disease association.

Variable severity and age of presentation, predominantly with cutaneous and neurologic abnormalities. Phenotype can be difficult to predict from genotype, however note currently included in tNBS.

Treatment: biotin

Non-genetic confirmatory testing: biotinidase enzyme activity in serum or plasma
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark Marked gene: BTD as ready
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency, MIM 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark Marked gene: HLCS as ready
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark Gene: hlcs has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency, MIM# 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark Marked gene: GCDH as ready
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 33069577; Phenotypes: Glutaric aciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Tag for review tag was added to gene: CBS.
Genomic newborn screening: BabyScreen+ 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.
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Marked gene: CBS as ready
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types to Homocystinuria (MIM# 236200)
Genomic newborn screening: BabyScreen+ v0.269 CBS Zornitza Stark Publications for gene: CBS were set to
Genomic newborn screening: BabyScreen+ v0.268 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Genomic newborn screening: BabyScreen+ v0.268 CBS Zornitza Stark reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27778219; Phenotypes: Homocystinuria (MIM# 236200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark Tag treatable tag was added to gene: CFTR.
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark Marked gene: CFTR as ready
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark changed review comment from: Well established gene-disease association.

Typically presents in infancy and early childhood.

Early treatment improves outcomes.

Non-genetic confirmatory testing available.; to: Well established gene-disease association.

Typically presents in infancy and early childhood.

Early treatment improves outcomes.

Non-genetic confirmatory testing available: sweat test.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.268 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Genomic newborn screening: BabyScreen+ v0.268 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.268 CYP21A2 Zornitza Stark Tag for review tag was added to gene: CYP21A2.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.268 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Genomic newborn screening: BabyScreen+ v0.268 MMADHC Zornitza Stark reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria, cblD type, variant 1 MIM#277410, Methylmalonic aciduria and homocystinuria, cblD type MIM#277410, Methylmalonic aciduria, cblD type, variant 2 MIM#277410, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Genomic newborn screening: BabyScreen+ v0.268 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33085788, 32885845; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 MT-RNR1 Zornitza Stark Marked gene: MT-RNR1 as ready
Genomic newborn screening: BabyScreen+ v0.268 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.268 MT-RNR1 Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.268 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.266 COQ8B John Christodoulou reviewed gene: COQ8B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 COQ8A John Christodoulou reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 COQ7 John Christodoulou reviewed gene: COQ7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 COQ4 John Christodoulou reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 COLQ John Christodoulou reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CLN8 John Christodoulou reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CLN6 John Christodoulou reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CLN5 John Christodoulou reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CLN3 John Christodoulou reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHRNG John Christodoulou reviewed gene: CHRNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHRNE John Christodoulou reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHRND John Christodoulou changed review comment from: congenital myasthenia syndrome

anti cholinesterase inhibitors partially effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary; to: congenital myasthenia syndrome

anti cholinesterase inhibitors partially effective; 3,4-DAP effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary
Genomic newborn screening: BabyScreen+ v0.266 CHRND John Christodoulou reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHRNA1 John Christodoulou reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHAT John Christodoulou reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CA5A John Christodoulou reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 BTK John Christodoulou reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.266 BCS1L John Christodoulou reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 BCKDK John Christodoulou reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 BCHE John Christodoulou reviewed gene: BCHE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 AUH John Christodoulou reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 MCFD2 Zornitza Stark Phenotypes for gene: MCFD2 were changed from Factor V and Factor VIII deficiency, combined to Factor V and factor VIII, combined deficiency of, MIM# 613625
Genomic newborn screening: BabyScreen+ v0.265 MCFD2 Zornitza Stark Tag for review tag was added to gene: MCFD2.
Genomic newborn screening: BabyScreen+ v0.265 MC2R Zornitza Stark Marked gene: MC2R as ready
Genomic newborn screening: BabyScreen+ v0.265 MC2R Zornitza Stark Gene: mc2r has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.265 MC2R Zornitza Stark Tag treatable tag was added to gene: MC2R.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.265 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Genomic newborn screening: BabyScreen+ v0.265 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.264 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.264 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.263 MARVELD2 Zornitza Stark Marked gene: MARVELD2 as ready
Genomic newborn screening: BabyScreen+ v0.263 MARVELD2 Zornitza Stark Gene: marveld2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.263 MARVELD2 Zornitza Stark Phenotypes for gene: MARVELD2 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 49, MIM# 610153
Genomic newborn screening: BabyScreen+ v0.262 MAP2K2 Zornitza Stark Marked gene: MAP2K2 as ready
Genomic newborn screening: BabyScreen+ v0.262 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.262 MAP2K2 Zornitza Stark Phenotypes for gene: MAP2K2 were changed from Cardiofaciocutaneous syndrome to Cardiofaciocutaneous syndrome 4, MIM# 615280
Genomic newborn screening: BabyScreen+ v0.261 MAP2K2 Zornitza Stark Classified gene: MAP2K2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.261 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.260 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Genomic newborn screening: BabyScreen+ v0.260 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.260 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from Cardiofaciocutaneous syndrome to Cardiofaciocutaneous syndrome 3, MIM# 615279
Genomic newborn screening: BabyScreen+ v0.259 MAP2K1 Zornitza Stark Classified gene: MAP2K1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.259 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.258 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Genomic newborn screening: BabyScreen+ v0.258 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.258 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha to Mannosidosis, alpha-, types I and II, MIM# 248500
Genomic newborn screening: BabyScreen+ v0.257 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Genomic newborn screening: BabyScreen+ v0.257 MAGI2 Zornitza Stark Tag for review tag was added to gene: MAGI2.
Genomic newborn screening: BabyScreen+ v0.257 MAGI2 Zornitza Stark reviewed gene: MAGI2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 15, MIM# 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.257 MAFB Zornitza Stark Marked gene: MAFB as ready
Genomic newborn screening: BabyScreen+ v0.257 MAFB Zornitza Stark Gene: mafb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.257 MAFB Zornitza Stark Phenotypes for gene: MAFB were changed from Multicentric carpotarsal osteolysis syndrome to Multicentric carpotarsal osteolysis syndrome (MIM#166300)
Genomic newborn screening: BabyScreen+ v0.256 MAFB Zornitza Stark Publications for gene: MAFB were set to
Genomic newborn screening: BabyScreen+ v0.255 MAFB Zornitza Stark Tag for review tag was added to gene: MAFB.
Genomic newborn screening: BabyScreen+ v0.255 MAFB Zornitza Stark changed review comment from: Two case reports of successful treatment with cyclosporin.

For review.; to: Two case reports of successful treatment (esp of nephropathy) with cyclosporin.

For review.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.255 MAD2L2 Zornitza Stark Marked gene: MAD2L2 as ready
Genomic newborn screening: BabyScreen+ v0.255 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.255 MAD2L2 Zornitza Stark Publications for gene: MAD2L2 were set to
Genomic newborn screening: BabyScreen+ v0.254 MAD2L2 Zornitza Stark Classified gene: MAD2L2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.254 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.253 LYST Zornitza Stark Tag treatable tag was added to gene: LYST.
Genomic newborn screening: BabyScreen+ v0.253 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Genomic newborn screening: BabyScreen+ v0.253 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.252 LTBP4 Zornitza Stark Classified gene: LTBP4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.252 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.251 LRTOMT Zornitza Stark Marked gene: LRTOMT as ready
Genomic newborn screening: BabyScreen+ v0.251 LRTOMT Zornitza Stark Gene: lrtomt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.251 LRTOMT Zornitza Stark Phenotypes for gene: LRTOMT were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 63, MIM# 611451
Genomic newborn screening: BabyScreen+ v0.250 LRRC6 Zornitza Stark Marked gene: LRRC6 as ready
Genomic newborn screening: BabyScreen+ v0.250 LRRC6 Zornitza Stark Gene: lrrc6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.250 LRRC6 Zornitza Stark Phenotypes for gene: LRRC6 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 19, MIM# 614935
Genomic newborn screening: BabyScreen+ v0.249 LRRC6 Zornitza Stark Classified gene: LRRC6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.249 LRRC6 Zornitza Stark Gene: lrrc6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.248 MCOLN1 David Amor reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.248 LRSAM1 Zornitza Stark Marked gene: LRSAM1 as ready
Genomic newborn screening: BabyScreen+ v0.248 LRSAM1 Zornitza Stark Gene: lrsam1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.248 LRSAM1 Zornitza Stark Phenotypes for gene: LRSAM1 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436
Genomic newborn screening: BabyScreen+ v0.247 LRSAM1 Zornitza Stark Mode of inheritance for gene: LRSAM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.246 LRSAM1 Zornitza Stark Classified gene: LRSAM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.246 LRSAM1 Zornitza Stark Gene: lrsam1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.245 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Genomic newborn screening: BabyScreen+ v0.245 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.245 LRPPRC Zornitza Stark Phenotypes for gene: LRPPRC were changed from Leigh syndrome to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Genomic newborn screening: BabyScreen+ v0.244 LRPPRC Zornitza Stark Classified gene: LRPPRC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.244 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.243 LRPPRC Zornitza Stark reviewed gene: LRPPRC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.243 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Genomic newborn screening: BabyScreen+ v0.243 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.243 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome to Osteoporosis-pseudoglioma syndrome, MIM# 259770
Genomic newborn screening: BabyScreen+ v0.242 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.241 LRP5 Zornitza Stark Tag for review tag was added to gene: LRP5.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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?
Genomic newborn screening: BabyScreen+ v0.241 MCFD2 David Amor reviewed gene: MCFD2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Combine FV and FVIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.241 LRP4 Zornitza Stark Marked gene: LRP4 as ready
Genomic newborn screening: BabyScreen+ v0.241 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.241 LRP4 Zornitza Stark Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304 to Myasthenic syndrome, congenital, 17 , MIM#616304
Genomic newborn screening: BabyScreen+ v0.240 LRP4 Zornitza Stark Tag for review tag was added to gene: LRP4.
Genomic newborn screening: BabyScreen+ v0.240 LRP4 Zornitza Stark reviewed gene: LRP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 17, MIM# 616304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.240 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Genomic newborn screening: BabyScreen+ v0.240 LRP2 Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.240 LRP2 Zornitza Stark Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome to Donnai-Barrow syndrome, MIM#222448
Genomic newborn screening: BabyScreen+ v0.239 LRP2 Zornitza Stark Classified gene: LRP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.239 LRP2 Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.238 LRP2 Zornitza Stark reviewed gene: LRP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.238 LOXHD1 Zornitza Stark Marked gene: LOXHD1 as ready
Genomic newborn screening: BabyScreen+ v0.238 LOXHD1 Zornitza Stark Gene: loxhd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.238 LOXHD1 Zornitza Stark Phenotypes for gene: LOXHD1 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 77, MIM# 613079
Genomic newborn screening: BabyScreen+ v0.237 MC2R David Amor reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial glucocorticoid deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.237 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Genomic newborn screening: BabyScreen+ v0.237 LMX1B Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.237 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail patella syndrome to Nail-patella syndrome, MIM# 161200, MONDO:0008061
Genomic newborn screening: BabyScreen+ v0.236 LMX1B Zornitza Stark Classified gene: LMX1B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.236 LMX1B Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.235 LMX1B Zornitza Stark reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome, MIM# 161200, MONDO:0008061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.235 LMOD3 Zornitza Stark Marked gene: LMOD3 as ready
Genomic newborn screening: BabyScreen+ v0.235 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.235 LMOD3 Zornitza Stark Phenotypes for gene: LMOD3 were changed from Nemaline myopathy to Nemaline myopathy 10, MIM# 616165
Genomic newborn screening: BabyScreen+ v0.234 LMOD3 Zornitza Stark Classified gene: LMOD3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.234 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.233 LMOD3 Zornitza Stark reviewed gene: LMOD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 10, MIM# 616165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark Marked gene: LMBRD1 as ready
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark Tag treatable tag was added to gene: LMBRD1.
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type MIM# 277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.233 LITAF Zornitza Stark Marked gene: LITAF as ready
Genomic newborn screening: BabyScreen+ v0.233 LITAF Zornitza Stark Gene: litaf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.233 LITAF Zornitza Stark Phenotypes for gene: LITAF were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1C, MIM# 601098
Genomic newborn screening: BabyScreen+ v0.232 LITAF Zornitza Stark Mode of pathogenicity for gene: LITAF was changed from to None
Genomic newborn screening: BabyScreen+ v0.231 LITAF Zornitza Stark Classified gene: LITAF as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.231 LITAF Zornitza Stark Gene: litaf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.230 LIPA Zornitza Stark Marked gene: LIPA as ready
Genomic newborn screening: BabyScreen+ v0.230 LIPA Zornitza Stark Gene: lipa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.230 LIPA Zornitza Stark Phenotypes for gene: LIPA were changed from Wolman syndrome, MIM#278000 to Wolman syndrome, MIM#278000
Genomic newborn screening: BabyScreen+ v0.229 LIPA Zornitza Stark Tag treatable tag was added to gene: LIPA.
Genomic newborn screening: BabyScreen+ v0.229 LIPA Zornitza Stark reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000, Lysosomal acid lipase deficiency, MONDO:0010204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.229 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Genomic newborn screening: BabyScreen+ v0.229 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.229 MARVELD2 David Amor reviewed gene: MARVELD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.229 MAP2K2 David Amor reviewed gene: MAP2K2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.229 MAP2K1 David Amor reviewed gene: MAP2K1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.229 MAGI2 David Amor reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27932480; Phenotypes: congenital nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.229 MAD2L2 David Amor reviewed gene: MAD2L2: Rating: RED; Mode of pathogenicity: None; Publications: 27500492; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.228 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.228 LIFR Zornitza Stark edited their review of gene: LIFR: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.228 LIFR Zornitza Stark Marked gene: LIFR as ready
Genomic newborn screening: BabyScreen+ v0.228 LIFR Zornitza Stark Gene: lifr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.228 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from Stuve-Wiedemann syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559
Genomic newborn screening: BabyScreen+ v0.227 LIFR Zornitza Stark edited their review of gene: LIFR: Changed phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559
Genomic newborn screening: BabyScreen+ v0.227 LIFR Zornitza Stark Classified gene: LIFR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.227 LIFR Zornitza Stark Gene: lifr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.226 LIFR Zornitza Stark reviewed gene: LIFR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.226 LHX4 Zornitza Stark Marked gene: LHX4 as ready
Genomic newborn screening: BabyScreen+ v0.226 LHX4 Zornitza Stark Gene: lhx4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.226 LHX4 Zornitza Stark Mode of inheritance for gene: LHX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.225 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Genomic newborn screening: BabyScreen+ v0.225 LHX4 Zornitza Stark reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM#221750); Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.225 LHFPL5 Zornitza Stark Marked gene: LHFPL5 as ready
Genomic newborn screening: BabyScreen+ v0.225 LHFPL5 Zornitza Stark Gene: lhfpl5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.225 LHFPL5 Zornitza Stark Phenotypes for gene: LHFPL5 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 67, MIM# 610265
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.224 LEPR Zornitza Stark Marked gene: LEPR as ready
Genomic newborn screening: BabyScreen+ v0.224 LEPR Zornitza Stark Gene: lepr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.223 LEPR Zornitza Stark Tag clinical trial tag was added to gene: LEPR.
Genomic newborn screening: BabyScreen+ v0.223 LEPR Zornitza Stark Publications for gene: LEPR were set to
Genomic newborn screening: BabyScreen+ v0.222 LEPR Zornitza Stark Tag treatable tag was added to gene: LEPR.
Genomic newborn screening: BabyScreen+ v0.222 LEPR Zornitza Stark changed review comment from: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.

Further clinical trial pending.; to: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.

Further clinical trial due to recruit.
Genomic newborn screening: BabyScreen+ v0.222 LEPR Zornitza Stark changed review comment from: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.; to: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.

Further clinical trial pending.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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.
Genomic newborn screening: BabyScreen+ v0.222 LARS2 Zornitza Stark changed review comment from: For review. Treatment is supportive.; to: For review. Variable severity. Treatment is supportive.
Genomic newborn screening: BabyScreen+ v0.222 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Genomic newborn screening: BabyScreen+ v0.222 LARS2 Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.221 LARS2 Zornitza Stark Classified gene: LARS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.221 LARS2 Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.220 LDLR Zornitza Stark Marked gene: LDLR as ready
Genomic newborn screening: BabyScreen+ v0.220 LDLR Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.220 LDLR Zornitza Stark Phenotypes for gene: LDLR were changed from Hypercholesterolemia to Hypercholesterolemia, familial, 1, MIM# 143890
Genomic newborn screening: BabyScreen+ v0.219 LDLR Zornitza Stark Mode of inheritance for gene: LDLR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.218 LDLR Zornitza Stark edited their review of gene: LDLR: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.218 LDLR Zornitza Stark Tag for review tag was added to gene: LDLR.
Genomic newborn screening: BabyScreen+ v0.218 LDLR Zornitza Stark reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 1, MIM# 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.218 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Genomic newborn screening: BabyScreen+ v0.218 LARGE1 Zornitza Stark Gene: large1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.218 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840
Genomic newborn screening: BabyScreen+ v0.217 LARGE1 Zornitza Stark Classified gene: LARGE1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.217 LARGE1 Zornitza Stark Gene: large1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.216 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.216 LAMTOR2 Zornitza Stark Marked gene: LAMTOR2 as ready
Genomic newborn screening: BabyScreen+ v0.216 LAMTOR2 Zornitza Stark Gene: lamtor2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.216 LAMTOR2 Zornitza Stark Publications for gene: LAMTOR2 were set to
Genomic newborn screening: BabyScreen+ v0.215 LAMTOR2 Zornitza Stark Classified gene: LAMTOR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.215 LAMTOR2 Zornitza Stark Gene: lamtor2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.214 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Genomic newborn screening: BabyScreen+ v0.214 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.214 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from Danon disease to Danon disease, MIM# 300257
Genomic newborn screening: BabyScreen+ v0.213 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.212 LAMP2 Zornitza Stark Classified gene: LAMP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.212 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.211 LAMP2 Zornitza Stark Tag for review tag was added to gene: LAMP2.
Genomic newborn screening: BabyScreen+ v0.211 LAMP2 Zornitza Stark edited their review of gene: LAMP2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.211 LAMP2 Zornitza Stark reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.211 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
Genomic newborn screening: BabyScreen+ v0.211 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.211 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 3B, severe, MIM# 619786
Genomic newborn screening: BabyScreen+ v0.210 LAMC2 Zornitza Stark Classified gene: LAMC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.210 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.209 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Genomic newborn screening: BabyScreen+ v0.209 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.209 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from Pierson syndrome to Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Pierson syndrome, MIM# 609049
Genomic newborn screening: BabyScreen+ v0.208 LAMB2 Zornitza Stark Classified gene: LAMB2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.208 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.207 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199, Pierson syndrome, MIM# 609049; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.207 LAMA3 Zornitza Stark Marked gene: LAMA3 as ready
Genomic newborn screening: BabyScreen+ v0.207 LAMA3 Zornitza Stark Gene: lama3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.207 LAMA3 Zornitza Stark Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 2B, severe, MIM# 619784
Genomic newborn screening: BabyScreen+ v0.206 LAMA3 Zornitza Stark Classified gene: LAMA3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.206 LAMA3 Zornitza Stark Gene: lama3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.205 LAMA2 Zornitza Stark Tag for review tag was added to gene: LAMA2.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.205 L1CAM Zornitza Stark Tag for review tag was added to gene: L1CAM.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.205 ATP7B John Christodoulou reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LYST David Amor reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 ASL John Christodoulou reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LTBP4 David Amor reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LTBP4-related cutis laxa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 ARSB John Christodoulou reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LRTOMT David Amor reviewed gene: LRTOMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.205 LRSAM1 David Amor reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CMT2G, CMT2P; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 ARG1 John Christodoulou reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.205 AHCY John Christodoulou reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LRPPRC David Amor reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 AGL John Christodoulou reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LRP5 David Amor edited their review of gene: LRP5: Changed phenotypes: osteoporosis-pseudoglioma syndrome, cause exudative vireoretinopathy, osteopetrosis
Genomic newborn screening: BabyScreen+ v0.205 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Genomic newborn screening: BabyScreen+ v0.205 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.205 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from Carnitine palmitoyltransferase 2 deficiency to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Genomic newborn screening: BabyScreen+ v0.204 CPT2 Zornitza Stark Publications for gene: CPT2 were set to
Genomic newborn screening: BabyScreen+ v0.203 LRP5 David Amor reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.203 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Genomic newborn screening: BabyScreen+ v0.203 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885845; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.203 ACAD9 John Christodoulou reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.203 LRP4 David Amor reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital myaesthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.203 CPT1A Zornitza Stark Marked gene: CPT1A as ready
Genomic newborn screening: BabyScreen+ v0.203 CPT1A Zornitza Stark Gene: cpt1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.203 CPT1A Zornitza Stark Publications for gene: CPT1A were set to
Genomic newborn screening: BabyScreen+ v0.202 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Genomic newborn screening: BabyScreen+ v0.202 CPT1A Zornitza Stark reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885845; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.202 LRP2 David Amor reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.202 LOXHD1 David Amor reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: non-syndromic deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.202 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Genomic newborn screening: BabyScreen+ v0.202 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.202 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease to Maple syrup urine disease, type Ib, MIM# 248600
Genomic newborn screening: BabyScreen+ v0.201 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Genomic newborn screening: BabyScreen+ v0.201 BCKDHB Zornitza Stark reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.201 LMX1B David Amor reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.201 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Genomic newborn screening: BabyScreen+ v0.201 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.201 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease to Maple syrup urine disease, type Ia, MIM# 248600
Genomic newborn screening: BabyScreen+ v0.200 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Genomic newborn screening: BabyScreen+ v0.200 BCKDHA Zornitza Stark reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.200 LMOD3 David Amor edited their review of gene: LMOD3: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.200 LMOD3 David Amor reviewed gene: LMOD3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark Marked gene: DBT as ready
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Genomic newborn screening: BabyScreen+ v0.200 LMBRD1 David Amor reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined methylmalonic acidemia and homocystinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.200 LITAF David Amor reviewed gene: LITAF: Rating: RED; 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: CMT1C; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.200 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Genomic newborn screening: BabyScreen+ v0.200 LIPA David Amor reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolman disease, cholesterol ester storage disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Phenotypes for gene: ASS1 were changed from Citrullinemia, MIM#215700 to Citrullinaemia, MIM#215700
Genomic newborn screening: BabyScreen+ v0.199 ASS1 Zornitza Stark reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinaemia MIM#215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Genomic newborn screening: BabyScreen+ v0.199 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.199 ACAT1 Zornitza Stark reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750, Beta-ketothiolase deficiency MONDO:0008760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LIG4 David Amor reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, immunodeficiency, developmental delay, growth delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Genomic newborn screening: BabyScreen+ v0.199 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.199 HMGCL Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LIFR David Amor reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stuve-Wiedemann syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LHX4 David Amor reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: combined pituitary hormone deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.199 LHX3 David Amor reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.199 LHFPL5 David Amor reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.199 LDLR David Amor reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: familial hypercholesterolemia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LARS2 David Amor reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome, sensorineural hearing loss, ovarian dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LARGE1 David Amor reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wlaker-Warburg syndrome, muscular dystrophy-dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMTOR2 David Amor reviewed gene: LAMTOR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17195838; Phenotypes: Immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMP2 David Amor reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease - cardiomyopathy, retinal disease, cognitive dysfunction; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.199 LAMB2 David Amor reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome - congenital nephrotic syndrome and eye abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.199 LAMA2 David Amor reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LAMA2 muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.199 L1CAM David Amor Deleted their review
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.199 SMN1 John Christodoulou reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ACADVL John Christodoulou reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 GALE John Christodoulou reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 GALK1 John Christodoulou reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 GALT John Christodoulou commented on gene: GALT: part of newborn screening programs nationally (but not in Victoria)
Genomic newborn screening: BabyScreen+ v0.199 GALT John Christodoulou reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 TAT John Christodoulou reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PCCB John Christodoulou reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PCCA John Christodoulou reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PCBD1 John Christodoulou reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 QDPR John Christodoulou reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PTS John Christodoulou reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PAH John Christodoulou reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ETFB John Christodoulou reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ETFA John Christodoulou reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ETFDH John Christodoulou reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HADHB John Christodoulou reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HADHA John Christodoulou reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MMAB John Christodoulou reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MMAA John Christodoulou reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MUT John Christodoulou reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ACADM John Christodoulou reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 IVD John Christodoulou reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 BTD John Christodoulou reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HLCS John Christodoulou reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 GCDH John Christodoulou reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CBS John Christodoulou reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CFTR John Christodoulou reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CYP21A2 John Christodoulou reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LMBRD1 John Christodoulou reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MMADHC John Christodoulou reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MMACHC John Christodoulou reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 SLC25A20 John Christodoulou reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 SLC22A5 John Christodoulou reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CPT2 John Christodoulou reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CPT1A John Christodoulou reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 BCKDHB John Christodoulou reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 BCKDHA John Christodoulou reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 DBT John Christodoulou reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ASS1 John Christodoulou reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ACAT1 John Christodoulou reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HMGCL John Christodoulou reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.198 BRAF Zornitza Stark Marked gene: BRAF as ready
Genomic newborn screening: BabyScreen+ v0.198 BRAF Zornitza Stark Gene: braf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.198 BRAF Zornitza Stark Classified gene: BRAF as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.198 BRAF Zornitza Stark Gene: braf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.197 BRAF Zornitza Stark reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.197 BLNK Zornitza Stark Tag treatable tag was added to gene: BLNK.
Genomic newborn screening: BabyScreen+ v0.197 BLNK Zornitza Stark reviewed gene: BLNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 10583958, 32194234, 25893637; Phenotypes: Agammaglobulinaemia 4, MIM# 613502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.197 BIN1 Zornitza Stark Marked gene: BIN1 as ready
Genomic newborn screening: BabyScreen+ v0.197 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.197 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from Myopathy, centronuclear, autosomal recessive to Centronuclear myopathy 2, MIM# 255200
Genomic newborn screening: BabyScreen+ v0.196 BIN1 Zornitza Stark Classified gene: BIN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.196 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.195 BIN1 Zornitza Stark reviewed gene: BIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.195 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Genomic newborn screening: BabyScreen+ v0.195 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.195 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from Congenital spinal muscular atrophy to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; Neurodevelopmental disorder (MONDO#0700092), BICD2-related
Genomic newborn screening: BabyScreen+ v0.194 BICD2 Zornitza Stark Publications for gene: BICD2 were set to
Genomic newborn screening: BabyScreen+ v0.193 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.192 BICD2 Zornitza Stark Classified gene: BICD2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.192 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.191 BICD2 Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: 23664116, 23664119, 23664120, 27751653, 28635954, 30054298, 29528393, 35896821; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290, MONDO:0014121, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291, Neurodevelopmental disorder (MONDO#0700092), BICD2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.191 ATP6V1B1 Zornitza Stark Marked gene: ATP6V1B1 as ready
Genomic newborn screening: BabyScreen+ v0.191 ATP6V1B1 Zornitza Stark Gene: atp6v1b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.190 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Genomic newborn screening: BabyScreen+ v0.190 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.189 ATP8B1 Zornitza Stark Classified gene: ATP8B1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.189 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark changed review comment from: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available.; to: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available.

However, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed publications: 32894695
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Tag for review tag was added to gene: ACVRL1.
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.187 ATP6V0A4 Zornitza Stark Marked gene: ATP6V0A4 as ready
Genomic newborn screening: BabyScreen+ v0.187 ATP6V0A4 Zornitza Stark Gene: atp6v0a4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.187 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Genomic newborn screening: BabyScreen+ v0.187 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.187 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva to Fibrodysplasia ossificans progressiva, MIM# 135100
Genomic newborn screening: BabyScreen+ v0.186 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Genomic newborn screening: BabyScreen+ v0.185 ACVR1 Zornitza Stark Classified gene: ACVR1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.185 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.184 ACVR1 Zornitza Stark Tag for review tag was added to gene: ACVR1.
Tag clinical trial tag was added to gene: ACVR1.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.184 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Genomic newborn screening: BabyScreen+ v0.184 ACOX1 Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.184 ACOX1 Zornitza Stark Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960
Genomic newborn screening: BabyScreen+ v0.183 ACOX1 Zornitza Stark Publications for gene: ACOX1 were set to
Genomic newborn screening: BabyScreen+ v0.182 ACOX1 Zornitza Stark Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.181 ACOX1 Zornitza Stark Classified gene: ACOX1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.181 ACOX1 Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.180 ACOX1 Zornitza Stark reviewed gene: ACOX1: Rating: RED; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470, Mitchell syndrome, MIM# 618960; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.180 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Genomic newborn screening: BabyScreen+ v0.180 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.180 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from Fructose intolerance, MIM#229600 to Fructose intolerance, hereditary, MIM# 229600
Genomic newborn screening: BabyScreen+ v0.179 ALDOB Zornitza Stark Tag treatable tag was added to gene: ALDOB.
Genomic newborn screening: BabyScreen+ v0.179 ALDOB Zornitza Stark edited their review of gene: ALDOB: Changed phenotypes: Fructose intolerance, hereditary, MIM# 229600
Genomic newborn screening: BabyScreen+ v0.179 ALDOB Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.179 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Genomic newborn screening: BabyScreen+ v0.179 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.179 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from Deafness, childhood onset to Deafness, autosomal dominant 82, MIM# 619804
Genomic newborn screening: BabyScreen+ v0.178 ATP2B2 Zornitza Stark Classified gene: ATP2B2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.178 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.177 ATP2B2 Zornitza Stark Tag for review tag was added to gene: ATP2B2.
Genomic newborn screening: BabyScreen+ v0.177 ATP2B2 Zornitza Stark reviewed gene: ATP2B2: Rating: RED; Mode of pathogenicity: None; Publications: 30535804; Phenotypes: Deafness, autosomal dominant 82, MIM# 619804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.177 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Genomic newborn screening: BabyScreen+ v0.177 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.176 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Genomic newborn screening: BabyScreen+ v0.175 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.174 ATP1A2 Zornitza Stark Classified gene: ATP1A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.174 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.173 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed publications: 31608932, 33880529
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.173 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Genomic newborn screening: BabyScreen+ v0.173 ALG9 Zornitza Stark Gene: alg9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.173 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.172 ALG9 Zornitza Stark Classified gene: ALG9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.172 ALG9 Zornitza Stark Gene: alg9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.171 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: RED; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364, 30676690; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210, Polycystic kidney disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.171 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Genomic newborn screening: BabyScreen+ v0.171 ALG8 Zornitza Stark Gene: alg8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.171 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from Congenital disorder of glycosylation, type Ih to Congenital disorder of glycosylation, type Ih, MIM# 608104
Genomic newborn screening: BabyScreen+ v0.170 ALG8 Zornitza Stark Classified gene: ALG8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.170 ALG8 Zornitza Stark Gene: alg8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.169 ALG8 Zornitza Stark reviewed gene: ALG8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.169 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Genomic newborn screening: BabyScreen+ v0.169 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.169 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from Congenital disorder of glycosylation, type Ic to Congenital disorder of glycosylation, type Ic (MIM#603147)
Genomic newborn screening: BabyScreen+ v0.168 ALG6 Zornitza Stark Classified gene: ALG6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.168 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.167 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.167 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Genomic newborn screening: BabyScreen+ v0.167 ALG3 Zornitza Stark Gene: alg3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.167 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from Congenital disorder of glycosylation, type Id to Congenital disorder of glycosylation, type Id, MIM# 601110
Genomic newborn screening: BabyScreen+ v0.166 ALG3 Zornitza Stark Classified gene: ALG3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.166 ALG3 Zornitza Stark Gene: alg3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.165 ALG3 Zornitza Stark reviewed gene: ALG3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Id 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.165 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Genomic newborn screening: BabyScreen+ v0.165 ALG12 Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.165 ALG12 Zornitza Stark Phenotypes for gene: ALG12 were changed from Congenital disorder of glycosylation, type Ig to Congenital disorder of glycosylation, type Ig, MIM# 607143
Genomic newborn screening: BabyScreen+ v0.164 ALG12 Zornitza Stark Classified gene: ALG12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.164 ALG12 Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.163 ALG12 Zornitza Stark reviewed gene: ALG12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.163 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Genomic newborn screening: BabyScreen+ v0.163 ALG1 Zornitza Stark Gene: alg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.163 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from Congenital disorder of glycosylation, type Ik to Congenital disorder of glycosylation, type Ik 608540
Genomic newborn screening: BabyScreen+ v0.162 ALG1 Zornitza Stark Classified gene: ALG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.162 ALG1 Zornitza Stark Gene: alg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.161 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ik 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ 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.
Genomic newborn screening: BabyScreen+ v0.161 ATP7A Zornitza Stark Tag for review tag was added to gene: ATP7A.
Tag treatable tag was added to gene: ATP7A.
Genomic newborn screening: BabyScreen+ v0.161 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Genomic newborn screening: BabyScreen+ v0.161 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.161 ATP7A Zornitza Stark Publications for gene: ATP7A were set to
Genomic newborn screening: BabyScreen+ v0.160 ATP7A Zornitza Stark edited their review of gene: ATP7A: Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.160 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: ; Mode of pathogenicity: None; Publications: 30594472; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.160 ATRX Zornitza Stark Marked gene: ATRX as ready
Genomic newborn screening: BabyScreen+ v0.160 ATRX Zornitza Stark Gene: atrx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.160 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580
Genomic newborn screening: BabyScreen+ v0.159 ATRX Zornitza Stark Classified gene: ATRX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.159 ATRX Zornitza Stark Gene: atrx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.158 ATRX Zornitza Stark reviewed gene: ATRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.158 BAAT Zornitza Stark Marked gene: BAAT as ready
Genomic newborn screening: BabyScreen+ v0.158 BAAT Zornitza Stark Gene: baat has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.158 BAAT Zornitza Stark Phenotypes for gene: BAAT were changed from Bile acid amidation defect to Bile acid conjugation defect 1, MIM# 619232
Genomic newborn screening: BabyScreen+ v0.157 BAAT Zornitza Stark Classified gene: BAAT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.157 BAAT Zornitza Stark Gene: baat has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.156 BAAT Zornitza Stark reviewed gene: BAAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid conjugation defect 1, MIM# 619232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.156 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Genomic newborn screening: BabyScreen+ v0.156 B3GLCT Zornitza Stark Gene: b3glct has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.156 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from Peters-Plus syndrome to Peters-plus syndrome, MIM#261540
Genomic newborn screening: BabyScreen+ v0.155 B3GLCT Zornitza Stark Classified gene: B3GLCT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.155 B3GLCT Zornitza Stark Gene: b3glct has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.154 B3GLCT Zornitza Stark reviewed gene: B3GLCT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peters-plus syndrome, MIM#261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.154 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Genomic newborn screening: BabyScreen+ v0.154 BBS9 Zornitza Stark Gene: bbs9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.154 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 9, MIM#615986
Genomic newborn screening: BabyScreen+ v0.153 BBS9 Zornitza Stark Classified gene: BBS9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.153 BBS9 Zornitza Stark Gene: bbs9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.152 BBS9 Zornitza Stark reviewed gene: BBS9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.152 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Genomic newborn screening: BabyScreen+ v0.152 BBS7 Zornitza Stark Gene: bbs7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.152 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 7, MIM# 615984
Genomic newborn screening: BabyScreen+ v0.151 BBS7 Zornitza Stark Classified gene: BBS7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.151 BBS7 Zornitza Stark Gene: bbs7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.150 BBS7 Zornitza Stark reviewed gene: BBS7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.150 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Genomic newborn screening: BabyScreen+ v0.150 BBS5 Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.150 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 5, MIM#615983
Genomic newborn screening: BabyScreen+ v0.149 BBS5 Zornitza Stark Classified gene: BBS5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.149 BBS5 Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.148 BBS5 Zornitza Stark reviewed gene: BBS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.148 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Genomic newborn screening: BabyScreen+ v0.148 BBS4 Zornitza Stark Gene: bbs4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.148 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 4, MIM#615982
Genomic newborn screening: BabyScreen+ v0.147 BBS4 Zornitza Stark Classified gene: BBS4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.147 BBS4 Zornitza Stark Gene: bbs4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.146 BBS4 Zornitza Stark reviewed gene: BBS4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.146 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Genomic newborn screening: BabyScreen+ v0.146 BBS2 Zornitza Stark Gene: bbs2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.146 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 2, MIM# 615981
Genomic newborn screening: BabyScreen+ v0.145 BBS2 Zornitza Stark Classified gene: BBS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.145 BBS2 Zornitza Stark Gene: bbs2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.144 BBS2 Zornitza Stark reviewed gene: BBS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 2, MIM# 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.144 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Genomic newborn screening: BabyScreen+ v0.144 BBS12 Zornitza Stark Gene: bbs12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.144 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 12, MIM# 615989
Genomic newborn screening: BabyScreen+ v0.143 BBS12 Zornitza Stark Classified gene: BBS12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.143 BBS12 Zornitza Stark Gene: bbs12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.142 BBS12 Zornitza Stark reviewed gene: BBS12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 12, MIM# 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.142 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Genomic newborn screening: BabyScreen+ v0.142 BBS10 Zornitza Stark Gene: bbs10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.142 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 10, MIM# 615987
Genomic newborn screening: BabyScreen+ v0.141 BBS10 Zornitza Stark Classified gene: BBS10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.141 BBS10 Zornitza Stark Gene: bbs10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.140 BBS10 Zornitza Stark reviewed gene: BBS10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 10, MIM# 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.140 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Genomic newborn screening: BabyScreen+ v0.140 BBS1 Zornitza Stark Gene: bbs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.140 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 1, MIM# 209900
Genomic newborn screening: BabyScreen+ v0.139 BBS1 Zornitza Stark Classified gene: BBS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.139 BBS1 Zornitza Stark Gene: bbs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.138 BBS1 Zornitza Stark reviewed gene: BBS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 1, MIM# 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.138 ATP6V1B1 Zornitza Stark Tag for review tag was added to gene: ATP6V1B1.
Tag treatable tag was added to gene: ATP6V1B1.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.138 ATP6V0A4 Zornitza Stark Tag for review tag was added to gene: ATP6V0A4.
Tag treatable tag was added to gene: ATP6V0A4.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.138 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Genomic newborn screening: BabyScreen+ v0.138 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.137 ATP6V0A2 Zornitza Stark Classified gene: ATP6V0A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.137 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.136 ATP2A1 Zornitza Stark Marked gene: ATP2A1 as ready
Genomic newborn screening: BabyScreen+ v0.136 ATP2A1 Zornitza Stark Gene: atp2a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.136 ATP2A1 Zornitza Stark Phenotypes for gene: ATP2A1 were changed from Brody myopathy to Brody myopathy, OMIM # 601003
Genomic newborn screening: BabyScreen+ v0.135 ATP2A1 Zornitza Stark Classified gene: ATP2A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.135 ATP2A1 Zornitza Stark Gene: atp2a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.134 ATP2A1 Zornitza Stark reviewed gene: ATP2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brody myopathy, OMIM # 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.134 ATM Zornitza Stark Marked gene: ATM as ready
Genomic newborn screening: BabyScreen+ v0.134 ATM Zornitza Stark Gene: atm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.134 ATM Zornitza Stark Phenotypes for gene: ATM were changed from Ataxia-telangiectasia to Ataxia-telangiectasia, MIM# 208900
Genomic newborn screening: BabyScreen+ v0.133 ATM Zornitza Stark Classified gene: ATM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.133 ATM Zornitza Stark Gene: atm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.132 ASPA Zornitza Stark Marked gene: ASPA as ready
Genomic newborn screening: BabyScreen+ v0.132 ASPA Zornitza Stark Gene: aspa has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.132 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from Canavan disease to Canavan disease MIM#271900
Genomic newborn screening: BabyScreen+ v0.131 ASPA Zornitza Stark Classified gene: ASPA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.131 ASPA Zornitza Stark Gene: aspa has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.130 ASPA Zornitza Stark reviewed gene: ASPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MIM#271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.130 ARPC1B Zornitza Stark Marked gene: ARPC1B as ready
Genomic newborn screening: BabyScreen+ v0.130 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.130 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Genomic newborn screening: BabyScreen+ v0.130 ALMS1 Zornitza Stark Gene: alms1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.130 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from Alstrom syndrome to Alstrom syndrome, MIM# 203800
Genomic newborn screening: BabyScreen+ v0.129 ALMS1 Zornitza Stark Classified gene: ALMS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.129 ALMS1 Zornitza Stark Gene: alms1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.128 ALMS1 Zornitza Stark reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.128 ARX Zornitza Stark Marked gene: ARX as ready
Genomic newborn screening: BabyScreen+ v0.128 ARX Zornitza Stark Gene: arx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.128 ARX Zornitza Stark Phenotypes for gene: ARX were changed from Lissencephaly, X-linked 2 to Lissencephaly, X-linked 2, MIM# 300215
Genomic newborn screening: BabyScreen+ v0.127 ARX Zornitza Stark Classified gene: ARX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.127 ARX Zornitza Stark Gene: arx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.126 ARX Zornitza Stark reviewed gene: ARX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked 2, MIM# 300215; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.126 ARSA Zornitza Stark Marked gene: ARSA as ready
Genomic newborn screening: BabyScreen+ v0.126 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.126 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy to Metachromatic leukodystrophy, MIM# 250100
Genomic newborn screening: BabyScreen+ v0.125 ARSA Zornitza Stark Tag for review tag was added to gene: ARSA.
Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Genomic newborn screening: BabyScreen+ v0.125 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.125 ARPC1B Zornitza Stark changed review comment from: Established gene-disease association, 3 families and functional data.

Severe disorder with onset in infancy/childhood. Recurrent infections and inflammatory features such as vasculitis and eczema.

Treatable: bone marrow transplant.; to: Established gene-disease association, 9 families and functional data.

Severe disorder with onset in infancy/childhood. Recurrent infections and inflammatory features such as vasculitis and eczema.

Treatable: bone marrow transplant.
Genomic newborn screening: BabyScreen+ v0.125 ARPC1B Zornitza Stark Tag treatable tag was added to gene: ARPC1B.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.125 ARMC4 Zornitza Stark Marked gene: ARMC4 as ready
Genomic newborn screening: BabyScreen+ v0.125 ARMC4 Zornitza Stark Gene: armc4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.125 ARMC4 Zornitza Stark Phenotypes for gene: ARMC4 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 23, MIM# 615451
Genomic newborn screening: BabyScreen+ v0.124 ARMC4 Zornitza Stark Classified gene: ARMC4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.124 ARMC4 Zornitza Stark Gene: armc4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.123 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Genomic newborn screening: BabyScreen+ v0.123 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.123 ARFGEF2 Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from Periventricular heterotopia with microcephaly to Periventricular heterotopia with microcephaly (MIM#608097)
Genomic newborn screening: BabyScreen+ v0.122 ARFGEF2 Zornitza Stark Classified gene: ARFGEF2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.122 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.121 ARFGEF2 Zornitza Stark reviewed gene: ARFGEF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.121 AR Zornitza Stark Marked gene: AR as ready
Genomic newborn screening: BabyScreen+ v0.121 AR Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.120 AR Zornitza Stark Classified gene: AR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.120 AR Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.119 AVPR2 Zornitza Stark changed review comment from: Well established gene-disease association.

Onset in infancy. Causes severe dehydration, can be life-threatening.

Treatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin.

Clinical trials.; to: Well established gene-disease association.

Onset in infancy. Causes severe dehydration, can be life-threatening.

Treatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin.

Clinical trials.

Around 10% of variants are large deletions.
Genomic newborn screening: BabyScreen+ v0.119 AVPR2 Zornitza Stark Tag SV/CNV tag was added to gene: AVPR2.
Genomic newborn screening: BabyScreen+ v0.119 AVP Zornitza Stark Marked gene: AVP as ready
Genomic newborn screening: BabyScreen+ v0.119 AVP Zornitza Stark Gene: avp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.119 AVP Zornitza Stark Classified gene: AVP as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.119 AVP Zornitza Stark Gene: avp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.117 AVPR2 Zornitza Stark Marked gene: AVPR2 as ready
Genomic newborn screening: BabyScreen+ v0.117 AVPR2 Zornitza Stark Gene: avpr2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.117 AVPR2 Zornitza Stark Tag treatable tag was added to gene: AVPR2.
Tag clinical trial tag was added to gene: AVPR2.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.117 AQP2 Zornitza Stark Marked gene: AQP2 as ready
Genomic newborn screening: BabyScreen+ v0.117 AQP2 Zornitza Stark Gene: aqp2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.117 AQP2 Zornitza Stark Publications for gene: AQP2 were set to
Genomic newborn screening: BabyScreen+ v0.116 AQP2 Zornitza Stark Tag treatable tag was added to gene: AQP2.
Tag clinical trial tag was added to gene: AQP2.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.116 AMN Zornitza Stark Tag treatable tag was added to gene: AMN.
Genomic newborn screening: BabyScreen+ v0.116 APTX Zornitza Stark Marked gene: APTX as ready
Genomic newborn screening: BabyScreen+ v0.116 APTX Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.116 APTX Zornitza Stark Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Genomic newborn screening: BabyScreen+ v0.115 APTX Zornitza Stark Publications for gene: APTX were set to
Genomic newborn screening: BabyScreen+ v0.114 APTX Zornitza Stark Classified gene: APTX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.114 APTX Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.113 APTX Zornitza Stark reviewed gene: APTX: Rating: RED; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.113 APRT Zornitza Stark Marked gene: APRT as ready
Genomic newborn screening: BabyScreen+ v0.113 APRT Zornitza Stark Gene: aprt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.113 APRT Zornitza Stark Classified gene: APRT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.113 APRT Zornitza Stark Gene: aprt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.112 APRT Zornitza Stark Tag for review tag was added to gene: APRT.
Tag treatable tag was added to gene: APRT.
Genomic newborn screening: BabyScreen+ v0.112 APRT Zornitza Stark reviewed gene: APRT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenine phosphoribosyltransferase deficiency MIM#614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.112 APOB Zornitza Stark Marked gene: APOB as ready
Genomic newborn screening: BabyScreen+ v0.112 APOB Zornitza Stark Gene: apob has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.112 APOB Zornitza Stark Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2, MIM# 144010 to Hypercholesterolaemia, familial, 2, MIM# 144010
Genomic newborn screening: BabyScreen+ v0.111 APOB Zornitza Stark Phenotypes for gene: APOB were changed from Apolipoprotein B deficiency to Hypercholesterolemia, familial, 2, MIM# 144010
Genomic newborn screening: BabyScreen+ v0.110 APOB Zornitza Stark Mode of inheritance for gene: APOB was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.109 APOB Zornitza Stark Classified gene: APOB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.109 APOB Zornitza Stark Gene: apob has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.108 APOB Zornitza Stark Tag for review tag was added to gene: APOB.
Tag treatable tag was added to gene: APOB.
Genomic newborn screening: BabyScreen+ v0.108 APOB Zornitza Stark reviewed gene: APOB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 2, MIM# 144010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.107 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Genomic newborn screening: BabyScreen+ v0.107 ARID1B Zornitza Stark Gene: arid1b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.107 ARID1B Zornitza Stark Phenotypes for gene: ARID1B were changed from Coffin-Siris syndrome to Coffin-Siris syndrome 1 MIM#135900
Genomic newborn screening: BabyScreen+ v0.106 ARID1B Zornitza Stark Classified gene: ARID1B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.106 ARID1B Zornitza Stark Gene: arid1b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.105 APC Zornitza Stark Marked gene: APC as ready
Genomic newborn screening: BabyScreen+ v0.105 APC Zornitza Stark Gene: apc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.104 APC Zornitza Stark Classified gene: APC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.104 APC Zornitza Stark Gene: apc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.103 APC Zornitza Stark Tag treatable tag was added to gene: APC.
Genomic newborn screening: BabyScreen+ v0.103 APC Zornitza Stark Tag for review tag was added to gene: APC.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.103 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Genomic newborn screening: BabyScreen+ v0.103 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.103 AP4M1 Zornitza Stark Classified gene: AP4M1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.103 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.102 AP4E1 Zornitza Stark Marked gene: AP4E1 as ready
Genomic newborn screening: BabyScreen+ v0.102 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.102 AP4E1 Zornitza Stark Classified gene: AP4E1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.102 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.101 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Genomic newborn screening: BabyScreen+ v0.101 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.101 AP4B1 Zornitza Stark Classified gene: AP4B1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.101 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.100 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Genomic newborn screening: BabyScreen+ v0.100 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.100 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from Hermansky-Pudlak syndrome 2 to Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997
Genomic newborn screening: BabyScreen+ v0.99 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Genomic newborn screening: BabyScreen+ v0.99 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.97 ANTXR2 Zornitza Stark Marked gene: ANTXR2 as ready
Genomic newborn screening: BabyScreen+ v0.97 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.97 ANTXR2 Zornitza Stark Phenotypes for gene: ANTXR2 were changed from Hyaline fibromatosis syndrome to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229
Genomic newborn screening: BabyScreen+ v0.96 ANTXR2 Zornitza Stark Classified gene: ANTXR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.96 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.95 ANO10 Zornitza Stark Marked gene: ANO10 as ready
Genomic newborn screening: BabyScreen+ v0.95 ANO10 Zornitza Stark Gene: ano10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.94 ANO10 Zornitza Stark Classified gene: ANO10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.94 ANO10 Zornitza Stark Gene: ano10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.93 ANKRD26 Zornitza Stark Marked gene: ANKRD26 as ready
Genomic newborn screening: BabyScreen+ v0.93 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.93 ANKRD26 Zornitza Stark Phenotypes for gene: ANKRD26 were changed from Thrombocytopenia 2 to Thrombocytopaenia 2, MIM# 188000
Genomic newborn screening: BabyScreen+ v0.92 ANKRD26 Zornitza Stark Classified gene: ANKRD26 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.92 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.91 ANKRD26 Zornitza Stark reviewed gene: ANKRD26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.91 ANKH Zornitza Stark Marked gene: ANKH as ready
Genomic newborn screening: BabyScreen+ v0.91 ANKH Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.91 ANKH Zornitza Stark Phenotypes for gene: ANKH were changed from Craniometaphyseal dysplasia to Craniometaphyseal dysplasia MIM#123000
Genomic newborn screening: BabyScreen+ v0.90 ANKH Zornitza Stark Classified gene: ANKH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.90 ANKH Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.89 ANK2 Zornitza Stark Marked gene: ANK2 as ready
Genomic newborn screening: BabyScreen+ v0.89 ANK2 Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.89 ANK2 Zornitza Stark Classified gene: ANK2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.89 ANK2 Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.88 ANK2 Zornitza Stark reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.88 ANK1 Zornitza Stark Marked gene: ANK1 as ready
Genomic newborn screening: BabyScreen+ v0.88 ANK1 Zornitza Stark Gene: ank1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.88 ANK1 Zornitza Stark Phenotypes for gene: ANK1 were changed from Spherocytosis to Spherocytosis, type 1 MIM#182900
Genomic newborn screening: BabyScreen+ v0.87 ANK1 Zornitza Stark Mode of inheritance for gene: ANK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.86 ANK1 Zornitza Stark Classified gene: ANK1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.86 ANK1 Zornitza Stark Gene: ank1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.85 ANK1 Zornitza Stark edited their review of gene: ANK1: Changed rating: RED
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.85 AMT Zornitza Stark Marked gene: AMT as ready
Genomic newborn screening: BabyScreen+ v0.85 AMT Zornitza Stark Gene: amt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.85 AMT Zornitza Stark Phenotypes for gene: AMT were changed from Hyperglycinaemia, non-ketotic to Glycine encephalopathy MIM#605899
Genomic newborn screening: BabyScreen+ v0.84 AMT Zornitza Stark Classified gene: AMT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.84 AMT Zornitza Stark Gene: amt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.83 AMT Zornitza Stark reviewed gene: AMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.83 AMN Zornitza Stark edited their review of gene: AMN: Changed phenotypes: Megaloblastic anaemia-1, Norwegian type, MIM#618882
Genomic newborn screening: BabyScreen+ v0.83 AMN Zornitza Stark Marked gene: AMN as ready
Genomic newborn screening: BabyScreen+ v0.83 AMN Zornitza Stark Gene: amn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.83 AMN Zornitza Stark Tag for review tag was added to gene: AMN.
Genomic newborn screening: BabyScreen+ 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.
Genomic newborn screening: BabyScreen+ v0.83 AMN Zornitza Stark reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.83 ALPL Zornitza Stark Marked gene: ALPL as ready
Genomic newborn screening: BabyScreen+ v0.83 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.83 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from Hypophosphatasia, MIM#241500 to Hypophosphatasia, childhood OMIM#241510; Hypophosphatasia, infantile OMIM#241500
Genomic newborn screening: BabyScreen+ v0.82 ALPL Zornitza Stark Publications for gene: ALPL were set to
Genomic newborn screening: BabyScreen+ v0.81 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Genomic newborn screening: BabyScreen+ v0.81 ALPL Zornitza Stark edited their review of gene: ALPL: Changed publications: 31413732, 30811537
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.81 AMELX Zornitza Stark Marked gene: AMELX as ready
Genomic newborn screening: BabyScreen+ v0.81 AMELX Zornitza Stark Gene: amelx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.81 AMELX Zornitza Stark Phenotypes for gene: AMELX were changed from Amelogenesis imperfecta to Amelogenesis imperfecta, type 1E, MIM# 301200
Genomic newborn screening: BabyScreen+ v0.80 AMELX Zornitza Stark Classified gene: AMELX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.80 AMELX Zornitza Stark Gene: amelx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.79 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Genomic newborn screening: BabyScreen+ v0.79 ALX4 Zornitza Stark Gene: alx4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.78 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.77 ALX4 Zornitza Stark Classified gene: ALX4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.77 ALX4 Zornitza Stark Gene: alx4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.76 ALOXE3 Zornitza Stark Marked gene: ALOXE3 as ready
Genomic newborn screening: BabyScreen+ v0.76 ALOXE3 Zornitza Stark Gene: aloxe3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.76 ALOXE3 Zornitza Stark Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 3, MIM#606545
Genomic newborn screening: BabyScreen+ v0.75 ALOXE3 Zornitza Stark Classified gene: ALOXE3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.75 ALOXE3 Zornitza Stark Gene: aloxe3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.74 ALS2 Zornitza Stark Marked gene: ALS2 as ready
Genomic newborn screening: BabyScreen+ v0.74 ALS2 Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.73 ALS2 Zornitza Stark Classified gene: ALS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.73 ALS2 Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.72 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Genomic newborn screening: BabyScreen+ v0.72 ALOX12B Zornitza Stark Gene: alox12b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.72 ALOX12B Zornitza Stark Phenotypes for gene: ALOX12B were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Genomic newborn screening: BabyScreen+ v0.71 ALOX12B Zornitza Stark Classified gene: ALOX12B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.71 ALOX12B Zornitza Stark Gene: alox12b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.70 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Genomic newborn screening: BabyScreen+ v0.70 ALG14 Zornitza Stark Gene: alg14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.69 ALG14 Zornitza Stark Classified gene: ALG14 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.69 ALG14 Zornitza Stark Gene: alg14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.68 ALG14 Zornitza Stark Tag for review tag was added to gene: ALG14.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.68 AKR1D1 Zornitza Stark Marked gene: AKR1D1 as ready
Genomic newborn screening: BabyScreen+ v0.68 AKR1D1 Zornitza Stark Gene: akr1d1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.68 AK2 Zornitza Stark Marked gene: AK2 as ready
Genomic newborn screening: BabyScreen+ v0.68 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.68 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Genomic newborn screening: BabyScreen+ v0.68 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.68 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from Polymicrogyria, bilateral frontoparietal to Polymicrogyria, bilateral frontoparietal, MIM#606854
Genomic newborn screening: BabyScreen+ v0.67 ADGRG1 Zornitza Stark Classified gene: ADGRG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.67 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.66 ADGRG1 Zornitza Stark reviewed gene: ADGRG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.66 ADAMTS13 Zornitza Stark Publications for gene: ADAMTS13 were set to
Genomic newborn screening: BabyScreen+ v0.65 ADAMTS13 Zornitza Stark edited their review of gene: ADAMTS13: Changed publications: 31759790
Genomic newborn screening: BabyScreen+ v0.65 ADAMTS13 Zornitza Stark Tag treatable tag was added to gene: ADAMTS13.
Genomic newborn screening: BabyScreen+ v0.65 ADAMTS13 Zornitza Stark Marked gene: ADAMTS13 as ready
Genomic newborn screening: BabyScreen+ v0.65 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.65 ADAMTS13 Zornitza Stark reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.65 AK2 Zornitza Stark Tag treatable tag was added to gene: AK2.
Genomic newborn screening: BabyScreen+ v0.65 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, MIM# 267500; MONDO:0009973
Genomic newborn screening: BabyScreen+ v0.64 AK2 Zornitza Stark Publications for gene: AK2 were set to
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.63 AGRN Zornitza Stark Marked gene: AGRN as ready
Genomic newborn screening: BabyScreen+ v0.63 AGRN Zornitza Stark Gene: agrn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.63 AGRN Zornitza Stark Phenotypes for gene: AGRN were changed from Myasthenia, limb-girdle, familial, MIM#615120 to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120
Genomic newborn screening: BabyScreen+ v0.62 AGRN Zornitza Stark Tag clinical trial tag was added to gene: AGRN.
Genomic newborn screening: BabyScreen+ v0.62 AGRN Zornitza Stark Tag treatable tag was added to gene: AGRN.
Genomic newborn screening: BabyScreen+ v0.62 AGRN Zornitza Stark changed review comment from: Three unrelated families reported.

Severe, congenital disorder.

Treatment available: salbutamol, acetylcholine-esterase inhibitors.; to: Three unrelated families reported.

Severe, congenital disorder.

Treatment available: salbutamol, acetylcholine-esterase inhibitors.

Clinical trial: 3,4-Diaminopyridine.
Genomic newborn screening: BabyScreen+ v0.62 AGRN Zornitza Stark reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.62 ADA Zornitza Stark Marked gene: ADA as ready
Genomic newborn screening: BabyScreen+ v0.62 ADA Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.62 ADA Zornitza Stark Phenotypes for gene: ADA were changed from Severe combined immunodeficiency due to ADA deficiency, MIM#102700 to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064
Genomic newborn screening: BabyScreen+ v0.61 ADA Zornitza Stark Publications for gene: ADA were set to
Genomic newborn screening: BabyScreen+ v0.60 ADA Zornitza Stark Tag treatable tag was added to gene: ADA.
Tag clinical trial tag was added to gene: ADA.
Genomic newborn screening: BabyScreen+ v0.60 ADA Zornitza Stark reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 33974366; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.60 ACTN1 Zornitza Stark Marked gene: ACTN1 as ready
Genomic newborn screening: BabyScreen+ v0.60 ACTN1 Zornitza Stark Gene: actn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.60 ACTN1 Zornitza Stark Phenotypes for gene: ACTN1 were changed from Macrothrombocytopenia to Bleeding disorder, platelet-type, 15, MIM# 615193
Genomic newborn screening: BabyScreen+ v0.59 ACTN1 Zornitza Stark Classified gene: ACTN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.59 ACTN1 Zornitza Stark Gene: actn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.58 ACTN1 Zornitza Stark reviewed gene: ACTN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bleeding disorder, platelet-type, 15, MIM# 615193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.58 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Genomic newborn screening: BabyScreen+ v0.58 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.58 ABCG5 Zornitza Stark Phenotypes for gene: ABCG5 were changed from Sitosterolemia to Sitosterolaemia 2, MIM# 618666
Genomic newborn screening: BabyScreen+ v0.57 ABCG5 Zornitza Stark Tag treatable tag was added to gene: ABCG5.
Tag clinical trial tag was added to gene: ABCG5.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.57 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Genomic newborn screening: BabyScreen+ v0.57 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.57 ABCD1 Zornitza Stark Tag for review tag was added to gene: ABCD1.
Genomic newborn screening: BabyScreen+ v0.57 ABCD1 Zornitza Stark Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy to Adrenoleukodystrophy, MIM# 300100
Genomic newborn screening: BabyScreen+ v0.56 ABCD1 Zornitza Stark Tag treatable tag was added to gene: ABCD1.
Genomic newborn screening: BabyScreen+ v0.56 ABCD1 Zornitza Stark reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.56 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Genomic newborn screening: BabyScreen+ v0.56 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.56 ABCC6 Zornitza Stark Tag for review tag was added to gene: ABCC6.
Genomic newborn screening: BabyScreen+ v0.56 ABCC6 Zornitza Stark changed review comment from: Well established gene-disease association.

Severe disorder with onset in infancy, can be fatal.

Treatment available: etidronate.; to: Well established gene-disease association.

Severe disorder with onset in infancy, can be fatal.

Treatment available: etidronate.

However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder.

There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.
Genomic newborn screening: BabyScreen+ v0.56 ABCC6 Zornitza Stark Publications for gene: ABCC6 were set to
Genomic newborn screening: BabyScreen+ v0.55 ABCC6 Zornitza Stark Tag treatable tag was added to gene: ABCC6.
Genomic newborn screening: BabyScreen+ v0.55 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33005041, 34355424; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM# 614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.55 ABCC2 Zornitza Stark Marked gene: ABCC2 as ready
Genomic newborn screening: BabyScreen+ v0.55 ABCC2 Zornitza Stark Gene: abcc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.55 ABCC2 Zornitza Stark Classified gene: ABCC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.55 ABCC2 Zornitza Stark Gene: abcc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.54 ABCC2 Zornitza Stark reviewed gene: ABCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dubin-Johnson syndrome, MIM# 237500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.54 ABCB4 Zornitza Stark Marked gene: ABCB4 as ready
Genomic newborn screening: BabyScreen+ v0.54 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.53 ABCB4 Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.52 ABCB4 Zornitza Stark Classified gene: ABCB4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.52 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.51 ABCB11 Zornitza Stark Marked gene: ABCB11 as ready
Genomic newborn screening: BabyScreen+ v0.51 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.50 ABCB11 Zornitza Stark Classified gene: ABCB11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.50 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.49 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Genomic newborn screening: BabyScreen+ v0.49 ABCA4 Zornitza Stark Gene: abca4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.49 ABCA4 Zornitza Stark Phenotypes for gene: ABCA4 were changed from Stargardt disease to Cone-rod dystrophy 3, 604116; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200
Genomic newborn screening: BabyScreen+ v0.48 ABCA4 Zornitza Stark Classified gene: ABCA4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.48 ABCA4 Zornitza Stark Gene: abca4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.47 ABCA4 Zornitza Stark reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.47 ABCA3 Zornitza Stark Marked gene: ABCA3 as ready
Genomic newborn screening: BabyScreen+ v0.47 ABCA3 Zornitza Stark Gene: abca3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.47 ABCA3 Zornitza Stark Phenotypes for gene: ABCA3 were changed from Surfactant metabolism dysfunction, pulmonary, 3 to Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921
Genomic newborn screening: BabyScreen+ v0.46 ABCA3 Zornitza Stark Classified gene: ABCA3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.46 ABCA3 Zornitza Stark Gene: abca3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.45 ABCA3 Zornitza Stark reviewed gene: ABCA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.45 ABCA12 Zornitza Stark Marked gene: ABCA12 as ready
Genomic newborn screening: BabyScreen+ v0.45 ABCA12 Zornitza Stark Gene: abca12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.44 ABCA12 Zornitza Stark Classified gene: ABCA12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.44 ABCA12 Zornitza Stark Gene: abca12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.43 AARS Zornitza Stark Marked gene: AARS as ready
Genomic newborn screening: BabyScreen+ v0.43 AARS Zornitza Stark Gene: aars has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.43 AARS Zornitza Stark Phenotypes for gene: AARS were changed from Charcot-Marie-Tooth disease to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287
Genomic newborn screening: BabyScreen+ v0.42 AARS Zornitza Stark Mode of inheritance for gene: AARS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.41 AARS Zornitza Stark Classified gene: AARS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.41 AARS Zornitza Stark Gene: aars has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.40 AARS Zornitza Stark reviewed gene: AARS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339, Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.40 AAAS Zornitza Stark Marked gene: AAAS as ready
Genomic newborn screening: BabyScreen+ v0.40 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.40 AAAS Zornitza Stark Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome to Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Genomic newborn screening: BabyScreen+ v0.39 AAAS Zornitza Stark Publications for gene: AAAS were set to
Genomic newborn screening: BabyScreen+ v0.38 AAAS Zornitza Stark Tag for review tag was added to gene: AAAS.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.38 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Genomic newborn screening: BabyScreen+ v0.38 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.38 ALDH7A1 Zornitza Stark Publications for gene: ALDH7A1 were set to
Genomic newborn screening: BabyScreen+ v0.37 ALDH7A1 Zornitza Stark Tag treatable tag was added to gene: ALDH7A1.
Genomic newborn screening: BabyScreen+ v0.37 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33200442; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.37 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Genomic newborn screening: BabyScreen+ v0.37 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.37 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Genomic newborn screening: BabyScreen+ v0.36 ALDH5A1 Zornitza Stark Classified gene: ALDH5A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.36 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.35 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.35 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Genomic newborn screening: BabyScreen+ v0.35 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.35 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome to Sjogren-Larsson syndrome MIM#270200
Genomic newborn screening: BabyScreen+ v0.34 ALDH3A2 Zornitza Stark Classified gene: ALDH3A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.34 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.33 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome MIM#270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.33 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Genomic newborn screening: BabyScreen+ v0.33 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.32 ALDH18A1 Zornitza Stark Mode of inheritance for gene: ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.31 ALDH18A1 Zornitza Stark Classified gene: ALDH18A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.31 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.30 ALB Zornitza Stark Marked gene: ALB as ready
Genomic newborn screening: BabyScreen+ v0.30 ALB Zornitza Stark Gene: alb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.30 ALB Zornitza Stark Phenotypes for gene: ALB were changed from Analbuminemia to Analbuminemia, MIM# 616000
Genomic newborn screening: BabyScreen+ v0.29 ALB Zornitza Stark Classified gene: ALB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.29 ALB Zornitza Stark Gene: alb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.28 ALB Zornitza Stark reviewed gene: ALB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Analbuminemia, MIM# 616000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.28 ALAS2 Zornitza Stark Marked gene: ALAS2 as ready
Genomic newborn screening: BabyScreen+ v0.28 ALAS2 Zornitza Stark Gene: alas2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.27 ALAS2 Zornitza Stark Classified gene: ALAS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.27 ALAS2 Zornitza Stark Gene: alas2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.26 ALAS2 Zornitza Stark Tag for review tag was added to gene: ALAS2.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.26 AKR1D1 Zornitza Stark Tag for review tag was added to gene: AKR1D1.
Tag treatable tag was added to gene: AKR1D1.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.26 AIRE Zornitza Stark Marked gene: AIRE as ready
Genomic newborn screening: BabyScreen+ v0.26 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.25 AIRE Zornitza Stark Tag for review tag was added to gene: AIRE.
Tag treatable tag was added to gene: AIRE.
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.25 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Genomic newborn screening: BabyScreen+ v0.25 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.24 AIFM1 Zornitza Stark Classified gene: AIFM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.24 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.23 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Genomic newborn screening: BabyScreen+ v0.23 AHI1 Zornitza Stark Gene: ahi1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.23 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from Joubert syndrome-3 to Joubert syndrome 3, MIM# 608629
Genomic newborn screening: BabyScreen+ v0.22 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Genomic newborn screening: BabyScreen+ v0.21 AHI1 Zornitza Stark Classified gene: AHI1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.21 AHI1 Zornitza Stark Gene: ahi1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.20 AHI1 Zornitza Stark reviewed gene: AHI1: Rating: RED; Mode of pathogenicity: None; Publications: 15322546, 15467982, 16155189; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.20 AGXT Zornitza Stark Marked gene: AGXT as ready
Genomic newborn screening: BabyScreen+ v0.20 AGXT Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.20 AGXT Zornitza Stark Phenotypes for gene: AGXT were changed from Hyperoxaluria, primary, type 1 to Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823
Genomic newborn screening: BabyScreen+ v0.19 AGXT Zornitza Stark Publications for gene: AGXT were set to
Genomic newborn screening: BabyScreen+ v0.18 AGXT Zornitza Stark Tag for review tag was added to gene: AGXT.
Tag treatable tag was added to gene: AGXT.
Tag clinical trial tag was added to gene: AGXT.
Genomic newborn screening: BabyScreen+ v0.18 AGXT Zornitza Stark reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: None; Publications: 33789010; Phenotypes: Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.18 AGA Zornitza Stark Marked gene: AGA as ready
Genomic newborn screening: BabyScreen+ v0.18 AGA Zornitza Stark Gene: aga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.18 AGA Zornitza Stark Phenotypes for gene: AGA were changed from Aspartylglucosaminuria to Aspartylglucosaminuria, MIM# 208400 MONDO:0008830
Genomic newborn screening: BabyScreen+ v0.17 AGA Zornitza Stark Classified gene: AGA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.17 AGA Zornitza Stark Gene: aga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.16 AGA Zornitza Stark reviewed gene: AGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartylglucosaminuria, MIM# 208400 MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.16 ADK Zornitza Stark Marked gene: ADK as ready
Genomic newborn screening: BabyScreen+ v0.16 ADK Zornitza Stark Gene: adk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.15 ADK Zornitza Stark Publications for gene: ADK were set to
Genomic newborn screening: BabyScreen+ v0.14 ADK Zornitza Stark Classified gene: ADK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.14 ADK Zornitza Stark Gene: adk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.13 ADAR Zornitza Stark Marked gene: ADAR as ready
Genomic newborn screening: BabyScreen+ v0.13 ADAR Zornitza Stark Gene: adar has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.12 ADAR Zornitza Stark Publications for gene: ADAR were set to
Genomic newborn screening: BabyScreen+ v0.11 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.10 ADAR Zornitza Stark Classified gene: ADAR as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.10 ADAR Zornitza Stark Gene: adar has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.9 ADAR Zornitza Stark Tag for review tag was added to gene: ADAR.
Tag treatable tag was added to gene: ADAR.
Tag clinical trial tag was added to gene: ADAR.
Genomic newborn screening: BabyScreen+ v0.9 ADAR Zornitza Stark reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.9 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Genomic newborn screening: BabyScreen+ v0.9 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.9 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 to Geleophysic dysplasia 1, MIM# 231050
Genomic newborn screening: BabyScreen+ v0.8 ADAMTSL2 Zornitza Stark Classified gene: ADAMTSL2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.8 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.7 ACTN4 Zornitza Stark Marked gene: ACTN4 as ready
Genomic newborn screening: BabyScreen+ v0.7 ACTN4 Zornitza Stark Gene: actn4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.7 ACTN4 Zornitza Stark Phenotypes for gene: ACTN4 were changed from Glomerulosclerosis, focal segmental, 1 to Glomerulosclerosis, focal segmental, 1, MIM#603278
Genomic newborn screening: BabyScreen+ v0.6 ACTN4 Zornitza Stark Classified gene: ACTN4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.6 ACTN4 Zornitza Stark Gene: actn4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.5 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Genomic newborn screening: BabyScreen+ v0.5 ACTG2 Zornitza Stark Gene: actg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.4 ACTG2 Zornitza Stark Classified gene: ACTG2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.4 ACTG2 Zornitza Stark Gene: actg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.3 ACE Zornitza Stark Marked gene: ACE as ready
Genomic newborn screening: BabyScreen+ v0.3 ACE Zornitza Stark Gene: ace has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.3 ACE Zornitza Stark Phenotypes for gene: ACE were changed from Renal tubular dysgenesis to Renal tubular dysgenesis, MIM# 267430
Genomic newborn screening: BabyScreen+ v0.2 ACE Zornitza Stark Publications for gene: ACE were set to
Genomic newborn screening: BabyScreen+ v0.1 ACE Zornitza Stark Classified gene: ACE as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1 ACE Zornitza Stark Gene: ace has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ZNF674 Zornitza Stark gene: ZNF674 was added
gene: ZNF674 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF674 were set to Mental retardation
Genomic newborn screening: BabyScreen+ v0.0 ZNF252P Zornitza Stark gene: ZNF252P was added
gene: ZNF252P was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ZNF252P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZNF252P were set to Hypothyroidism
Genomic newborn screening: BabyScreen+ v0.0 ZFPM2 Zornitza Stark gene: ZFPM2 was added
gene: ZFPM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZFPM2 were set to Tetralogy of Fallot
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to Ulna and fibula absence of with severe limb deficiency
Genomic newborn screening: BabyScreen+ v0.0 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type I
Genomic newborn screening: BabyScreen+ v0.0 WDR36 Zornitza Stark gene: WDR36 was added
gene: WDR36 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WDR36 were set to Glaucoma
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 VSX1 Zornitza Stark gene: VSX1 was added
gene: VSX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VSX1 were set to Keratoconus
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 VAMP1 Zornitza Stark Source Expert Review Red was added to VAMP1.
Source BabySeq Category C gene was added to VAMP1.
Mode of inheritance for gene VAMP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Spastic ataxia for gene: VAMP1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency
Genomic newborn screening: BabyScreen+ v0.0 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency
Genomic newborn screening: BabyScreen+ v0.0 UGT1A5 Zornitza Stark gene: UGT1A5 was added
gene: UGT1A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UGT1A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A5 were set to UDP glucuronosyltransferase deficiency
Genomic newborn screening: BabyScreen+ v0.0 UGT1A4 Zornitza Stark gene: UGT1A4 was added
gene: UGT1A4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UGT1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A4 were set to Crigler-Najjar syndrome
Genomic newborn screening: BabyScreen+ v0.0 UCP2 Zornitza Stark Source Expert Review Red was added to UCP2.
Source BabySeq Category C gene was added to UCP2.
Added phenotypes Hyperinsulinism for gene: UCP2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked infantile
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TSPEAR Zornitza Stark gene: TSPEAR was added
gene: TSPEAR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPEAR were set to Sensorineural deafness
Genomic newborn screening: BabyScreen+ v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency
Genomic newborn screening: BabyScreen+ v0.0 TRPM2 Zornitza Stark gene: TRPM2 was added
gene: TRPM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPM2 were set to ALS and Parkinson's disease
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRDN were set to Catecholaminergic polymorphic ventricular tachycardia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency
Genomic newborn screening: BabyScreen+ v0.0 TMPO Zornitza Stark gene: TMPO was added
gene: TMPO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMPO were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome; Meckel syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TJP2 Zornitza Stark gene: TJP2 was added
gene: TJP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TJP2 were set to Hypercholanemia, familial
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 THBD Zornitza Stark gene: THBD was added
gene: THBD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THBD were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 TGIF1 Zornitza Stark gene: TGIF1 was added
gene: TGIF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGIF1 were set to Holoprosencephaly-4
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB1 were set to Camurati-Engelmann disease
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 TCTN1 Zornitza Stark gene: TCTN1 was added
gene: TCTN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Cardiomyopathy, dilated; Muscular dystrophy, limb-girdle, type 2G
Genomic newborn screening: BabyScreen+ v0.0 TBX20 Zornitza Stark gene: TBX20 was added
gene: TBX20 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX20 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Hypoparathyroidism retardation dysmorphism syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TAB2 Zornitza Stark gene: TAB2 was added
gene: TAB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TAB2 were set to Congenital heart disease, nonsyndromic
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SYNE4 Zornitza Stark gene: SYNE4 was added
gene: SYNE4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SYNE4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE4 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to Amish infantile epilepsy syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SPTLC2 Zornitza Stark gene: SPTLC2 was added
gene: SPTLC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMO were set to Medulloblastoma
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SMAD6 Zornitza Stark gene: SMAD6 was added
gene: SMAD6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD6 were set to Cardiovascular malformation, congenital
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SLCO1B3 Zornitza Stark gene: SLCO1B3 was added
gene: SLCO1B3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLCO1B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO1B3 were set to Hyperbilirubinemia, Rotor type, digenic
Genomic newborn screening: BabyScreen+ v0.0 SLCO1B1 Zornitza Stark gene: SLCO1B1 was added
gene: SLCO1B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLCO1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SLC6A2 Zornitza Stark gene: SLC6A2 was added
gene: SLC6A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC6A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC6A2 were set to Orthostatic intolerance
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SLC4A10 Zornitza Stark gene: SLC4A10 was added
gene: SLC4A10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC4A10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC4A10 were set to Epilepsy & mental retardation
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SLC35C1 Zornitza Stark gene: SLC35C1 was added
gene: SLC35C1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35C1 were set to Congenital disorder of glycosylation 2c
Genomic newborn screening: BabyScreen+ v0.0 SLC35A2 Zornitza Stark gene: SLC35A2 was added
gene: SLC35A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC35A2 were set to Early-onset epileptic encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 SLC35A1 Zornitza Stark gene: SLC35A1 was added
gene: SLC35A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A1 were set to CDG syndrome type IIf
Genomic newborn screening: BabyScreen+ v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia, autosomal dominant; Congenital cataracts, hearing loss and low serum copper and ceruloplasmin
Genomic newborn screening: BabyScreen+ v0.0 SLC27A5 Zornitza Stark gene: SLC27A5 was added
gene: SLC27A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A5 were set to Bile acid amidation defect
Genomic newborn screening: BabyScreen+ v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Early myoclonic encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 SLC25A12 Zornitza Stark gene: SLC25A12 was added
gene: SLC25A12 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral
Genomic newborn screening: BabyScreen+ v0.0 SLC16A12 Zornitza Stark gene: SLC16A12 was added
gene: SLC16A12 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC16A12 were set to Cataract, juvenile with microcornea and renal glucosuria
Genomic newborn screening: BabyScreen+ v0.0 SLC16A1 Zornitza Stark Source Expert Review Red was added to SLC16A1.
Source BabySeq Category C gene was added to SLC16A1.
Added phenotypes Monocarboxylate transporter 1 deficiency for gene: SLC16A1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC12A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC12A5 were set to Febrile seizures
Genomic newborn screening: BabyScreen+ v0.0 SLC11A2 Zornitza Stark gene: SLC11A2 was added
gene: SLC11A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC11A2 were set to Anemia, hypochromic microcytic
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair
Genomic newborn screening: BabyScreen+ v0.0 SH3BP2 Zornitza Stark gene: SH3BP2 was added
gene: SH3BP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SH3BP2 were set to Cherubism
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SERPIND1 Zornitza Stark gene: SERPIND1 was added
gene: SERPIND1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SERPIND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SERPIND1 were set to Heparin cofactor 2 deficiency
Genomic newborn screening: BabyScreen+ v0.0 SERPINC1 Zornitza Stark gene: SERPINC1 was added
gene: SERPINC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SERPINC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SERPINC1 were set to Thrombophilia due to antithrombin III deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SEMA3A Zornitza Stark gene: SEMA3A was added
gene: SEMA3A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SEMA3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEMA3A were set to Kallmann syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 SEC63 Zornitza Stark gene: SEC63 was added
gene: SEC63 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEC63 were set to Polycystic liver disease
Genomic newborn screening: BabyScreen+ v0.0 SCP2 Zornitza Stark gene: SCP2 was added
gene: SCP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCP2 were set to Leukoencephalopathy - dystonia - motor neuropathy
Genomic newborn screening: BabyScreen+ v0.0 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Hepatic failure, early onset, and neurologic disorder
Genomic newborn screening: BabyScreen+ v0.0 SCNN1G Zornitza Stark Source Expert Review Red was added to SCNN1G.
Source BabySeq Category C gene was added to SCNN1G.
Added phenotypes Pseudohypoaldosteronism for gene: SCNN1G
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 SCN4B Zornitza Stark gene: SCN4B was added
gene: SCN4B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN4B were set to Long QT syndrome
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.0 SCN3B Zornitza Stark gene: SCN3B was added
gene: SCN3B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN3B were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 SCN2B Zornitza Stark gene: SCN2B was added
gene: SCN2B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN2B were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 SCN1B Zornitza Stark gene: SCN1B was added
gene: SCN1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN1B were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 RPS7 Zornitza Stark Source Expert Review Red was added to RPS7.
Source BabySeq Category C gene was added to RPS7.
Added phenotypes Diamond-Blackfan anemia for gene: RPS7
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 RPS10 Zornitza Stark Source Expert Review Red was added to RPS10.
Source BabySeq Category C gene was added to RPS10.
Added phenotypes Diamond-Blackfan anemia for gene: RPS10
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 RPL35A Zornitza Stark Source Expert Review Red was added to RPL35A.
Source BabySeq Category C gene was added to RPL35A.
Added phenotypes Diamond-Blackfan anemia for gene: RPL35A
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 RHAG Zornitza Stark gene: RHAG was added
gene: RHAG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RHAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RHAG were set to Rh-deficiency syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RELN were set to Lissencephaly syndrome
Genomic newborn screening: BabyScreen+ v0.0 RANGRF Zornitza Stark gene: RANGRF was added
gene: RANGRF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RANGRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RANGRF were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 RAD51B Zornitza Stark gene: RAD51B was added
gene: RAD51B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RAD51B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD51B were set to Breast and/or ovarian cancer
Genomic newborn screening: BabyScreen+ v0.0 RAB10 Zornitza Stark gene: RAB10 was added
gene: RAB10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RAB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAB10 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 PSEN2 Zornitza Stark gene: PSEN2 was added
gene: PSEN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSEN2 were set to Alzheimer disease, type 4
Genomic newborn screening: BabyScreen+ v0.0 PSEN1 Zornitza Stark gene: PSEN1 was added
gene: PSEN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3
Genomic newborn screening: BabyScreen+ v0.0 PSAT1 Zornitza Stark Source Expert Review Red was added to PSAT1.
Source BabySeq Category C gene was added to PSAT1.
Added phenotypes Phosphoserine aminotransferase deficiency for gene: PSAT1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 PRRX1 Zornitza Stark gene: PRRX1 was added
gene: PRRX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex
Genomic newborn screening: BabyScreen+ v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Charcot-Marie-Tooth disease; Arts syndrome
Genomic newborn screening: BabyScreen+ v0.0 PRODH Zornitza Stark gene: PRODH was added
gene: PRODH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRODH were set to Hyperprolinemia, type I
Genomic newborn screening: BabyScreen+ v0.0 PRKCSH Zornitza Stark gene: PRKCSH was added
gene: PRKCSH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKCSH were set to Polycystic liver disease
Genomic newborn screening: BabyScreen+ v0.0 PRKAG2 Zornitza Stark gene: PRKAG2 was added
gene: PRKAG2 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: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic; Wolff-Parkinson-White syndrome; Glycogen storage disease of heart, lethal congenital
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PREPL Zornitza Stark Source Expert Review Red was added to PREPL.
Source BabySeq Category C gene was added to PREPL.
Added phenotypes Hypotonia - cystinuria syndrome for gene: PREPL
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 PRDM16 Zornitza Stark gene: PRDM16 was added
gene: PRDM16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRDM16 were set to Left ventricular noncompaction
Genomic newborn screening: BabyScreen+ v0.0 PPOX Zornitza Stark gene: PPOX was added
gene: PPOX was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata
Genomic newborn screening: BabyScreen+ v0.0 POMC Zornitza Stark gene: POMC was added
gene: POMC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMC were set to Proopiomelanocortin deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PMS2 Zornitza Stark gene: PMS2 was added
gene: PMS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PMS2 were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to Bruck syndrome
Genomic newborn screening: BabyScreen+ v0.0 PLN Zornitza Stark gene: PLN was added
gene: PLN was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLN were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PHKA1 Zornitza Stark gene: PHKA1 was added
gene: PHKA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHKA1 were set to Phosphorylase kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PEX19 Zornitza Stark gene: PEX19 was added
gene: PEX19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PDSS2 Zornitza Stark Source Expert Review Red was added to PDSS2.
Source BabySeq Category C gene was added to PDSS2.
Added phenotypes Leigh syndrome with nephropathy and COQ10 deficiency for gene: PDSS2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PDLIM3 Zornitza Stark gene: PDLIM3 was added
gene: PDLIM3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDLIM3 were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PABPN1 Zornitza Stark gene: PABPN1 was added
gene: PABPN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PABPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy
Genomic newborn screening: BabyScreen+ v0.0 P2RX2 Zornitza Stark gene: P2RX2 was added
gene: P2RX2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: P2RX2 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 OTUD4 Zornitza Stark gene: OTUD4 was added
gene: OTUD4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: OTUD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTUD4 were set to Hypogonadotropic hypogonadism, ataxia & dementia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome
Genomic newborn screening: BabyScreen+ v0.0 ORC4 Zornitza Stark gene: ORC4 was added
gene: ORC4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome
Genomic newborn screening: BabyScreen+ v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA3 were set to Optic atrophy 3 with cataract; 3-methylglutaconic aciduria, type III
Genomic newborn screening: BabyScreen+ v0.0 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile
Genomic newborn screening: BabyScreen+ v0.0 NUP155 Zornitza Stark gene: NUP155 was added
gene: NUP155 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NUP155 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP155 were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 NUB1 Zornitza Stark gene: NUB1 was added
gene: NUB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NUB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NUB1 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NSDHL were set to CK syndrome; CHILD syndrome
Genomic newborn screening: BabyScreen+ v0.0 NRXN1 Zornitza Stark gene: NRXN1 was added
gene: NRXN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NRXN1 was set to Unknown
Phenotypes for gene: NRXN1 were set to Autism
Genomic newborn screening: BabyScreen+ v0.0 NRG1 Zornitza Stark gene: NRG1 was added
gene: NRG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NRG1 were set to Hirschsprung disease
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 NPPA Zornitza Stark gene: NPPA was added
gene: NPPA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NPPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NPPA were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH1 were set to Aortic valve disease
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 NLRP7 Zornitza Stark gene: NLRP7 was added
gene: NLRP7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NLRP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NLRP7 were set to Hydatidiform mole
Genomic newborn screening: BabyScreen+ v0.0 NLGN4X Zornitza Stark gene: NLGN4X was added
gene: NLGN4X was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NLGN4X was set to Unknown
Phenotypes for gene: NLGN4X were set to Autism
Genomic newborn screening: BabyScreen+ v0.0 NLGN3 Zornitza Stark gene: NLGN3 was added
gene: NLGN3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NLGN3 was set to Unknown
Phenotypes for gene: NLGN3 were set to Autism
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 NIN Zornitza Stark gene: NIN was added
gene: NIN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIN were set to Seckel syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 NFATC1 Zornitza Stark gene: NFATC1 was added
gene: NFATC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFATC1 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 NEXN Zornitza Stark gene: NEXN was added
gene: NEXN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEXN were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 NECTIN1 Zornitza Stark gene: NECTIN1 was added
gene: NECTIN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip / palate
Genomic newborn screening: BabyScreen+ v0.0 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEBL were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 NCF4 Zornitza Stark Source Expert Review Red was added to NCF4.
Source BabySeq Category C gene was added to NCF4.
Added phenotypes Chronic granulomatous disease for gene: NCF4
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NAA15 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency
Genomic newborn screening: BabyScreen+ v0.0 MYPN Zornitza Stark gene: MYPN was added
gene: MYPN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYPN were set to Cardiomyopathy, hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 MYOZ2 Zornitza Stark gene: MYOZ2 was added
gene: MYOZ2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYOZ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOZ2 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 MYOT Zornitza Stark gene: MYOT was added
gene: MYOT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOT were set to Myofibrillar myopathy
Genomic newborn screening: BabyScreen+ v0.0 MYOM1 Zornitza Stark gene: MYOM1 was added
gene: MYOM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOM1 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 MYO5A Zornitza Stark gene: MYO5A was added
gene: MYO5A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to Griscelli syndrome
Genomic newborn screening: BabyScreen+ v0.0 MYO1F Zornitza Stark gene: MYO1F was added
gene: MYO1F was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO1F was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1F were set to Sensorineural hearing loss
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MYO1C Zornitza Stark gene: MYO1C was added
gene: MYO1C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1C were set to Sensorineural hearing loss
Genomic newborn screening: BabyScreen+ v0.0 MYLK2 Zornitza Stark gene: MYLK2 was added
gene: MYLK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYLK2 was set to Unknown
Phenotypes for gene: MYLK2 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 MYH6 Zornitza Stark gene: MYH6 was added
gene: MYH6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH6 were set to Cardiomyopathy, dilated; Cardiomyopathy, familial hypertrophic; Atrial septal defect
Genomic newborn screening: BabyScreen+ v0.0 MYBPC3 Zornitza Stark gene: MYBPC3 was added
gene: MYBPC3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MT-ND6 Zornitza Stark gene: MT-ND6 was added
gene: MT-ND6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Leber hereditary optic neuropathy
Genomic newborn screening: BabyScreen+ v0.0 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4 were set to Leber hereditary optic neuropathy
Genomic newborn screening: BabyScreen+ v0.0 MT-ND1 Zornitza Stark gene: MT-ND1 was added
gene: MT-ND1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND1 were set to Leber hereditary optic neuropathy
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MSH6 Zornitza Stark gene: MSH6 was added
gene: MSH6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH6 were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 MSH2 Zornitza Stark gene: MSH2 was added
gene: MSH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH2 were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 MRPS22 Zornitza Stark gene: MRPS22 was added
gene: MRPS22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS22 were set to Mitochondrial respiratory chain disorder
Genomic newborn screening: BabyScreen+ v0.0 MRPS16 Zornitza Stark gene: MRPS16 was added
gene: MRPS16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS16 were set to Mitochondrial respiratory chain disorder
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MLPH Zornitza Stark gene: MLPH was added
gene: MLPH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLPH were set to Griscelli syndrome type 3
Genomic newborn screening: BabyScreen+ v0.0 MLH1 Zornitza Stark gene: MLH1 was added
gene: MLH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MLH1 were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 MIR96 Zornitza Stark gene: MIR96 was added
gene: MIR96 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MIR96 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIR96 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 MIB1 Zornitza Stark gene: MIB1 was added
gene: MIB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIB1 were set to Left ventricular noncompaction
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MED20 Zornitza Stark gene: MED20 was added
gene: MED20 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MED20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MED20 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MCEE Zornitza Stark gene: MCEE was added
gene: MCEE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency
Genomic newborn screening: BabyScreen+ v0.0 MCCC2 Zornitza Stark Source Expert Review Red was added to MCCC2.
Source BabySeq Category B gene was added to MCCC2.
Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency for gene: MCCC2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 MATN4 Zornitza Stark gene: MATN4 was added
gene: MATN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MATN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MATN4 were set to Multiple anomalies
Genomic newborn screening: BabyScreen+ v0.0 MAT1A Zornitza Stark gene: MAT1A was added
gene: MAT1A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency
Genomic newborn screening: BabyScreen+ v0.0 MAPT Zornitza Stark gene: MAPT was added
gene: MAPT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism
Genomic newborn screening: BabyScreen+ v0.0 MAPK10 Zornitza Stark gene: MAPK10 was added
gene: MAPK10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAPK10 were set to Epileptic encephalopathy
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 LRRK2 Zornitza Stark gene: LRRK2 was added
gene: LRRK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LRRK2 were set to Parkinson disease
Genomic newborn screening: BabyScreen+ v0.0 LPP Zornitza Stark gene: LPP was added
gene: LPP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LPP were set to Tetralogy of Fallot
Genomic newborn screening: BabyScreen+ v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN2 were set to Majeed syndrome
Genomic newborn screening: BabyScreen+ v0.0 LMNB2 Zornitza Stark gene: LMNB2 was added
gene: LMNB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNB2 were set to Lipodystrophy, partial
Genomic newborn screening: BabyScreen+ v0.0 LHB Zornitza Stark gene: LHB was added
gene: LHB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHB were set to Hypogonadism
Genomic newborn screening: BabyScreen+ v0.0 LGI1 Zornitza Stark gene: LGI1 was added
gene: LGI1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LGI1 were set to Epilepsy, familial temporal lobe, 1
Genomic newborn screening: BabyScreen+ v0.0 LDB3 Zornitza Stark gene: LDB3 was added
gene: LDB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDB3 were set to Myofibrillar myopathy
Genomic newborn screening: BabyScreen+ v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: LBR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LBR were set to Pelger-Huet anomaly; Reynolds syndrome
Genomic newborn screening: BabyScreen+ v0.0 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to Infantile liver failure syndrome
Genomic newborn screening: BabyScreen+ v0.0 LAMA4 Zornitza Stark gene: LAMA4 was added
gene: LAMA4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LAMA4 were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 KRT6B Zornitza Stark gene: KRT6B was added
gene: KRT6B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT6B were set to Pachyonychia congenita
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to Macrocephaly, neurodevelopmental delay, and seizures
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome
Genomic newborn screening: BabyScreen+ v0.0 KIF1B Zornitza Stark gene: KIF1B was added
gene: KIF1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF1B were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 KDM5B Zornitza Stark gene: KDM5B was added
gene: KDM5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KDM5B were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 KCNQ3 Zornitza Stark gene: KCNQ3 was added
gene: KCNQ3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Epilepsy, benign neonatal
Genomic newborn screening: BabyScreen+ v0.0 KCNQ2 Zornitza Stark Source Expert Review Red was added to KCNQ2.
Source BabySeq Category C gene was added to KCNQ2.
Added phenotypes Epilepsy, benign neonatal for gene: KCNQ2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 KCNQ1OT1 Zornitza Stark gene: KCNQ1OT1 was added
gene: KCNQ1OT1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNQ1OT1 was set to Unknown
Phenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome
Genomic newborn screening: BabyScreen+ v0.0 KCNJ8 Zornitza Stark gene: KCNJ8 was added
gene: KCNJ8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ8 were set to Sudden infant death syndrom
Genomic newborn screening: BabyScreen+ v0.0 KCNJ5 Zornitza Stark gene: KCNJ5 was added
gene: KCNJ5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ5 were set to Long QT syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 KCNE5 Zornitza Stark gene: KCNE5 was added
gene: KCNE5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNE5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE5 were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 KCNE3 Zornitza Stark gene: KCNE3 was added
gene: KCNE3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE3 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 KCND3 Zornitza Stark gene: KCND3 was added
gene: KCND3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCND3 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 JPH2 Zornitza Stark gene: JPH2 was added
gene: JPH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JPH2 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 ITGA7 Zornitza Stark gene: ITGA7 was added
gene: ITGA7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA7 were set to Congenital muscular dystrophy with integrin deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ISL1 Zornitza Stark gene: ISL1 was added
gene: ISL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ISL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ISL1 were set to Diabetes, type 2
Genomic newborn screening: BabyScreen+ v0.0 ISCU Zornitza Stark gene: ISCU was added
gene: ISCU was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ISCU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ISCU were set to Myopathy with defiency of succinate dehydrogenase
Genomic newborn screening: BabyScreen+ v0.0 IRS1 Zornitza Stark gene: IRS1 was added
gene: IRS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IRS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IRS1 were set to Diabetes mellitus, noninsulin dependent
Genomic newborn screening: BabyScreen+ v0.0 ILK Zornitza Stark gene: ILK was added
gene: ILK was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ILK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ILK were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 IL10RB Zornitza Stark Source Expert Review Red was added to IL10RB.
Source BabySeq Category C gene was added to IL10RB.
Added phenotypes Inflammatory bowel disease for gene: IL10RB
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 IGF1 Zornitza Stark gene: IGF1 was added
gene: IGF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to Insulin-like growth factor deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Asphyxiating thoracic dystrophy 2
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 HOMEZ Zornitza Stark gene: HOMEZ was added
gene: HOMEZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HOMEZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOMEZ were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome
Genomic newborn screening: BabyScreen+ v0.0 HMBS Zornitza Stark gene: HMBS was added
gene: HMBS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to Porphyria, acute intermittent
Genomic newborn screening: BabyScreen+ v0.0 HK1 Zornitza Stark Source Expert Review Red was added to HK1.
Source BabySeq Category C gene was added to HK1.
Mode of inheritance for gene HK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemolytic anemia due to hexokinase deficiency for gene: HK1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.0 HERC2 Zornitza Stark gene: HERC2 was added
gene: HERC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HERC2 were set to Autism spectrum disorder
Genomic newborn screening: BabyScreen+ v0.0 HCN4 Zornitza Stark gene: HCN4 was added
gene: HCN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HCN4 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCCS were set to Microphthalmia
Genomic newborn screening: BabyScreen+ v0.0 HAS2 Zornitza Stark gene: HAS2 was added
gene: HAS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HAS2 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 HARS Zornitza Stark gene: HARS was added
gene: HARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS were set to Usher syndrome type 3B
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 H19 Zornitza Stark gene: H19 was added
gene: H19 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene
Mode of inheritance for gene: H19 was set to Unknown
Phenotypes for gene: H19 were set to Beckwith-Wiedemann Syndrome
Genomic newborn screening: BabyScreen+ v0.0 GYG1 Zornitza Stark gene: GYG1 was added
gene: GYG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYG1 were set to Glycogen storage disease XV
Genomic newborn screening: BabyScreen+ v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to Meconium ileus
Genomic newborn screening: BabyScreen+ v0.0 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy
Genomic newborn screening: BabyScreen+ v0.0 GRIN2A Zornitza Stark gene: GRIN2A was added
gene: GRIN2A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GRIN2A were set to Epilepsy with neurodevelopmental defects
Genomic newborn screening: BabyScreen+ v0.0 GPX1 Zornitza Stark gene: GPX1 was added
gene: GPX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPX1 were set to Hemolytic anemia due to glutathione peroxidase deficiency
Genomic newborn screening: BabyScreen+ v0.0 GPHN Zornitza Stark gene: GPHN was added
gene: GPHN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPHN were set to Hyperekplexia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to Congenital disorder of glycosylation