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Genomic newborn screening: BabyScreen+ v1.34 C3 Zornitza Stark Marked gene: C3 as ready
Genomic newborn screening: BabyScreen+ v1.34 C3 Zornitza Stark Gene: c3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.34 C3 Zornitza Stark Phenotypes for gene: C3 were changed from Haemolytic uraemic syndrome; C3 deficiency, MIM# 613779 to C3 deficiency, MIM# 613779
Genomic newborn screening: BabyScreen+ v1.33 C3 Zornitza Stark Classified gene: C3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.33 C3 Zornitza Stark Gene: c3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.32 C3 Zornitza Stark Tag treatable tag was added to gene: C3.
Tag immunological tag was added to gene: C3.
Genomic newborn screening: BabyScreen+ v1.32 C3 Zornitza Stark reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C3 deficiency, MIM# 613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2052 RNPC3 Zornitza Stark Marked gene: RNPC3 as ready
Genomic newborn screening: BabyScreen+ v0.2052 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2052 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2052 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2051 RNPC3 Zornitza Stark gene: RNPC3 was added
gene: RNPC3 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: RNPC3.
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182
Phenotypes for gene: RNPC3 were set to Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160
Review for gene: RNPC3 was set to GREEN
Added comment: Three unrelated individuals reported with combined and isolated pituitary hormone deficiencies, including GH and TSH.

Onset: congenital.

Treatment: GH, thyroxine.

Non-genetic confirmatory testing: hormone levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1714 SLC34A3 Zornitza Stark Tag skeletal tag was added to gene: SLC34A3.
Genomic newborn screening: BabyScreen+ v0.1699 GIPC3 Zornitza Stark Tag deafness tag was added to gene: GIPC3.
Genomic newborn screening: BabyScreen+ v0.1698 G6PC3 Zornitza Stark Tag immunological tag was added to gene: G6PC3.
Genomic newborn screening: BabyScreen+ v0.1508 STAC3 Seb Lunke Marked gene: STAC3 as ready
Genomic newborn screening: BabyScreen+ v0.1508 STAC3 Seb Lunke Gene: stac3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1508 STAC3 Seb Lunke Classified gene: STAC3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1508 STAC3 Seb Lunke Gene: stac3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1507 STAC3 Seb Lunke reviewed gene: STAC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, Baily-Bloch, MIM# 255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1426 SLC35A2 Zornitza Stark Tag for review was removed from gene: SLC35A2.
Tag treatable tag was added to gene: SLC35A2.
Genomic newborn screening: BabyScreen+ v0.1426 SLC30A10 Zornitza Stark Tag for review was removed from gene: SLC30A10.
Genomic newborn screening: BabyScreen+ v0.1420 SLC39A14 Zornitza Stark Tag treatable tag was added to gene: SLC39A14.
Tag metabolic tag was added to gene: SLC39A14.
Genomic newborn screening: BabyScreen+ v0.1420 SLC30A10 Zornitza Stark Tag treatable tag was added to gene: SLC30A10.
Tag metabolic tag was added to gene: SLC30A10.
Genomic newborn screening: BabyScreen+ v0.1420 SLC35A2 Zornitza Stark Tag metabolic tag was added to gene: SLC35A2.
Genomic newborn screening: BabyScreen+ v0.1420 SLC35C1 Zornitza Stark Tag metabolic tag was added to gene: SLC35C1.
Genomic newborn screening: BabyScreen+ v0.1420 SLC39A7 Zornitza Stark Tag for review was removed from gene: SLC39A7.
Tag treatable tag was added to gene: SLC39A7.
Tag immunological tag was added to gene: SLC39A7.
Genomic newborn screening: BabyScreen+ v0.1420 SLC39A7 Zornitza Stark reviewed gene: SLC39A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1419 SLC37A4 Zornitza Stark Tag treatable tag was added to gene: SLC37A4.
Tag metabolic tag was added to gene: SLC37A4.
Genomic newborn screening: BabyScreen+ v0.1419 SLC39A4 Zornitza Stark Tag treatable tag was added to gene: SLC39A4.
Tag metabolic tag was added to gene: SLC39A4.
Genomic newborn screening: BabyScreen+ v0.1419 SLC39A8 Zornitza Stark Tag treatable tag was added to gene: SLC39A8.
Tag metabolic tag was added to gene: SLC39A8.
Genomic newborn screening: BabyScreen+ v0.1419 SLC3A1 Zornitza Stark Mode of inheritance for gene: SLC3A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1417 SLC3A1 Zornitza Stark Tag for review tag was added to gene: SLC3A1.
Tag treatable tag was added to gene: SLC3A1.
Tag renal tag was added to gene: SLC3A1.
Genomic newborn screening: BabyScreen+ v0.1416 SLC3A1 Zornitza Stark reviewed gene: SLC3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1338 SLC3A1 Seb Lunke Marked gene: SLC3A1 as ready
Genomic newborn screening: BabyScreen+ v0.1338 SLC3A1 Seb Lunke Gene: slc3a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1338 SLC3A1 Seb Lunke Phenotypes for gene: SLC3A1 were changed from Cystinuria to Cystinuria, MIM# 220100
Genomic newborn screening: BabyScreen+ v0.1337 SLC3A1 Seb Lunke Classified gene: SLC3A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1337 SLC3A1 Seb Lunke Gene: slc3a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1336 SLC3A1 Seb Lunke reviewed gene: SLC3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1336 SLC39A8 Seb Lunke Marked gene: SLC39A8 as ready
Genomic newborn screening: BabyScreen+ v0.1336 SLC39A8 Seb Lunke Gene: slc39a8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1336 SLC39A8 Seb Lunke Publications for gene: SLC39A8 were set to
Genomic newborn screening: BabyScreen+ v0.1335 SLC39A8 Seb Lunke reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 28722865; Phenotypes: Congenital disorder of glycosylation, type IIn , MIM#16721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1335 SLC39A4 Seb Lunke Marked gene: SLC39A4 as ready
Genomic newborn screening: BabyScreen+ v0.1335 SLC39A4 Seb Lunke Gene: slc39a4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1335 SLC39A4 Seb Lunke Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica to Acrodermatitis enteropathica, MIM# 201100
Genomic newborn screening: BabyScreen+ v0.1334 SLC39A4 Seb Lunke Publications for gene: SLC39A4 were set to
Genomic newborn screening: BabyScreen+ v0.1333 SLC39A4 Seb Lunke reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1333 SLC37A4 Seb Lunke Marked gene: SLC37A4 as ready
Genomic newborn screening: BabyScreen+ v0.1333 SLC37A4 Seb Lunke Gene: slc37a4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1333 SLC37A4 Seb Lunke Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib, MIM#232220 to Glycogen storage disease Ib, MIM# 232220; Glycogen storage disease Ic, MIM# 232240; Congenital disorder of glycosylation, type IIw, MIM# 619525
Genomic newborn screening: BabyScreen+ v0.1332 SLC37A4 Seb Lunke Mode of inheritance for gene: SLC37A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1331 SLC37A4 Seb Lunke edited their review of gene: SLC37A4: Added comment: Established gene-disease association.

Childhood onset, metabolic disorder

Treatment: corn starch, nighttime intragastric continuous glucose infusion, allopurinol, statin, granulocyte-colony stimulating factor (G-CSF), empagliflozin

Non-genetic confirmatory test: no; Changed phenotypes: Glycogen storage disease Ib, MIM# 232220, Glycogen storage disease Ic, MIM# 232240, Congenital disorder of glycosylation, type IIw, MIM# 619525
Genomic newborn screening: BabyScreen+ v0.1331 SLC37A4 Seb Lunke reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ib, MIM# 232220, Glycogen storage disease Ic M232240; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1331 SLC35D1 Seb Lunke Marked gene: SLC35D1 as ready
Genomic newborn screening: BabyScreen+ v0.1331 SLC35D1 Seb Lunke Gene: slc35d1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1331 SLC35D1 Seb Lunke Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia to Schneckenbecken dysplasia 269250, MONDO:0010013
Genomic newborn screening: BabyScreen+ v0.1330 SLC35D1 Seb Lunke Classified gene: SLC35D1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1330 SLC35D1 Seb Lunke Gene: slc35d1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1329 SLC35D1 Seb Lunke reviewed gene: SLC35D1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Schneckenbecken dysplasia 269250, MONDO:0010013; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1329 SLC34A2 Seb Lunke Marked gene: SLC34A2 as ready
Genomic newborn screening: BabyScreen+ v0.1329 SLC34A2 Seb Lunke Gene: slc34a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1329 SLC34A2 Seb Lunke Phenotypes for gene: SLC34A2 were changed from Pulmonary alveolar microlithiasis to Pulmonary alveolar microlithiasis, MIM# 265100
Genomic newborn screening: BabyScreen+ v0.1328 SLC34A2 Seb Lunke Classified gene: SLC34A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1328 SLC34A2 Seb Lunke Gene: slc34a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1327 SLC34A2 Seb Lunke reviewed gene: SLC34A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary alveolar microlithiasis, MIM# 265100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Marked gene: SLC39A7 as ready
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Gene: slc39a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Tag for review tag was added to gene: SLC39A7.
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Classified gene: SLC39A7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Gene: slc39a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1316 SLC39A7 Seb Lunke gene: SLC39A7 was added
gene: SLC39A7 was added to gNBS. Sources: Literature
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693
Added comment: Established gene-disease association.

Childhood onset, primary immunodeficiency

Treatment: Bone marrow transplant (hematopoietic stem cell transplantation (HSCT)), replacement immunoglobulin treatment

Non-genetic confirmatory test: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1315 SLC35C1 Seb Lunke Marked gene: SLC35C1 as ready
Genomic newborn screening: BabyScreen+ v0.1315 SLC35C1 Seb Lunke Gene: slc35c1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1315 SLC35C1 Seb Lunke Phenotypes for gene: SLC35C1 were changed from Congenital disorder of glycosylation 2c to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Genomic newborn screening: BabyScreen+ v0.1314 SLC35C1 Seb Lunke Publications for gene: SLC35C1 were set to
Genomic newborn screening: BabyScreen+ v0.1313 SLC35C1 Seb Lunke Classified gene: SLC35C1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1313 SLC35C1 Seb Lunke Gene: slc35c1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1312 SLC35C1 Seb Lunke Tag for review tag was added to gene: SLC35C1.
Genomic newborn screening: BabyScreen+ v0.1312 SLC35C1 Seb Lunke reviewed gene: SLC35C1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29702557; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1312 SLC35A2 Seb Lunke Marked gene: SLC35A2 as ready
Genomic newborn screening: BabyScreen+ v0.1312 SLC35A2 Seb Lunke Gene: slc35a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1312 SLC35A2 Seb Lunke Phenotypes for gene: SLC35A2 were changed from Early-onset epileptic encephalopathy to Congenital disorder of glycosylation, type IIm, MIM #300896
Genomic newborn screening: BabyScreen+ v0.1311 SLC35A2 Seb Lunke Publications for gene: SLC35A2 were set to
Genomic newborn screening: BabyScreen+ v0.1310 SLC35A2 Seb Lunke Classified gene: SLC35A2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1310 SLC35A2 Seb Lunke Gene: slc35a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1309 SLC35A2 Seb Lunke Tag for review tag was added to gene: SLC35A2.
Genomic newborn screening: BabyScreen+ v0.1309 SLC35A2 Seb Lunke reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32103184; Phenotypes: Congenital disorder of glycosylation, type IIm, MIM #300896; 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+ v0.1309 SLC30A10 Seb Lunke Marked gene: SLC30A10 as ready
Genomic newborn screening: BabyScreen+ v0.1309 SLC30A10 Seb Lunke Gene: slc30a10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1309 SLC30A10 Seb Lunke Classified gene: SLC30A10 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1309 SLC30A10 Seb Lunke Gene: slc30a10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1308 SLC30A10 Seb Lunke gene: SLC30A10 was added
gene: SLC30A10 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC30A10.
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 31089831
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1, MIM# 613280
Review for gene: SLC30A10 was set to GREEN
Added comment: Established gene-disease association.

Childhood onset, usually in first decade and multiple under 5 (youngest 2). Multi-system disorder

Treatment: manganese chelation therapy with EDTA-CaNa2 accepted as effective, other treatments under investigation.

Non-genetic confirmatory test: Mn level
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Marked gene: SLC39A14 as ready
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Gene: slc39a14 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Tag for review tag was added to gene: SLC39A14.
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Classified gene: SLC39A14 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Gene: slc39a14 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1306 SLC39A14 Seb Lunke gene: SLC39A14 was added
gene: SLC39A14 was added to gNBS. Sources: Literature
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 31089831
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, MIM# 617013
Review for gene: SLC39A14 was set to AMBER
Added comment: Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: manganese chelation therapy with EDTA-CaNa2 with strong improvements in one patient, less effective in multiple others. Age of treatment start (earlier = better) and genotype may impact outcome.

Non-genetic confirmatory test: Mn level
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1131 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Genomic newborn screening: BabyScreen+ v0.1131 GPC3 Zornitza Stark Gene: gpc3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1131 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from Simpson-Golabi-Behmel syndrome to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Genomic newborn screening: BabyScreen+ v0.1130 GPC3 Zornitza Stark Classified gene: GPC3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1130 GPC3 Zornitza Stark Gene: gpc3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1129 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1108 GIPC3 Zornitza Stark Marked gene: GIPC3 as ready
Genomic newborn screening: BabyScreen+ v0.1108 GIPC3 Zornitza Stark Gene: gipc3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1108 GIPC3 Zornitza Stark Phenotypes for gene: GIPC3 were changed from Hearing loss to Deafness, autosomal recessive 15, MIM# 601869
Genomic newborn screening: BabyScreen+ v0.1107 GIPC3 Zornitza Stark reviewed gene: GIPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 15, MIM# 601869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1019 SLC34A3 Zornitza Stark Marked gene: SLC34A3 as ready
Genomic newborn screening: BabyScreen+ v0.1019 SLC34A3 Zornitza Stark Gene: slc34a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1019 SLC34A3 Zornitza Stark Phenotypes for gene: SLC34A3 were changed from Hypophosphatemic rickets with hypercalciuria to Hypophosphatemic rickets with hypercalciuria, MIM#241530
Genomic newborn screening: BabyScreen+ v0.1018 SLC34A3 Zornitza Stark Tag treatable tag was added to gene: SLC34A3.
Genomic newborn screening: BabyScreen+ v0.1018 SLC34A3 Zornitza Stark reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets with hypercalciuria, MIM#241530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.944 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Genomic newborn screening: BabyScreen+ v0.944 TTC37 Zornitza Stark Gene: ttc37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.944 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome to Trichohepatoenteric syndrome 1, MIM#222470
Genomic newborn screening: BabyScreen+ v0.943 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Genomic newborn screening: BabyScreen+ v0.942 TTC37 Zornitza Stark Classified gene: TTC37 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.942 TTC37 Zornitza Stark Gene: ttc37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.890 TTC37 Lilian Downie reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29527791, PMID: 29334452; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Tag treatable tag was added to gene: G6PC3.
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
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+ v0.490 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+ v0.353 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+ v0.274 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+ v0.0 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 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 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC3 were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 C3 Zornitza Stark Source Expert Review Red was added to C3.
Source BabySeq Category C gene was added to C3.
Added phenotypes Haemolytic uraemic syndrome for gene: C3
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to Heterotaxy
Genomic newborn screening: BabyScreen+ v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome
Genomic newborn screening: BabyScreen+ v0.0 STAC3 Zornitza Stark gene: STAC3 was added
gene: STAC3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to 28411587; 30168660; 23736855; 28777491
Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch, MIM# 255995
Genomic newborn screening: BabyScreen+ v0.0 SLC3A1 Zornitza Stark gene: SLC3A1 was added
gene: SLC3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC3A1 were set to Cystinuria
Genomic newborn screening: BabyScreen+ v0.0 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721
Genomic newborn screening: BabyScreen+ v0.0 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica
Genomic newborn screening: BabyScreen+ v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, MIM#232220
Genomic newborn screening: BabyScreen+ v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia
Genomic newborn screening: BabyScreen+ v0.0 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria
Genomic newborn screening: BabyScreen+ v0.0 SLC34A2 Zornitza Stark gene: SLC34A2 was added
gene: SLC34A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis
Genomic newborn screening: BabyScreen+ v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome
Genomic newborn screening: BabyScreen+ v0.0 GIPC3 Zornitza Stark gene: GIPC3 was added
gene: GIPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GIPC3 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Neutropaenia, congenital, MIM#612541
Genomic newborn screening: BabyScreen+ v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 C3 Zornitza Stark gene: C3 was added
gene: C3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C3 were set to C3 deficiency, MIM# 613779