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| Genomic newborn screening: BabyScreen+ v0.2060 | SAMD9L |
Zornitza Stark gene: SAMD9L was added gene: SAMD9L was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological, haematological tags were added to gene: SAMD9L. Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SAMD9L were set to 31306780 Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550 Review for gene: SAMD9L was set to GREEN Added comment: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism. Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. The germline genetic defect is associated with somatic loss of chromosome 7 (monosomy 7) resulting in the deletion of several genes on chromosome 7 that may predispose to the development of myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML). Treatment: BMT. Non-genetic confirmatory testing: no. Sources: Expert list |
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| 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 |
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| Genomic newborn screening: BabyScreen+ v0.2001 | IKZF1 |
Zornitza Stark gene: IKZF1 was added gene: IKZF1 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13 MIM# 616873 Added comment: Over 25 individuals from 9 unrelated families with variants in IKZF1 displaying Immunodeficiency; three mouse models Heterozygous missense, frameshift and deletion variants in IKZF1 gene resulting in loss or alteration of a zinc finger DNA contact site cause LoF. Typically presents with recurrent bacterial respiratory infections, hypogammaglobulinaemia and low Ig levels; variable age of onset. PMID 35333544: Eight individuals harboring heterozygous IKZF1R183H or IKZF1R183C variants associated with GOF effects reported. The clinical phenotypes and pathophysiology associated with IKZF1R183H/C differ from those of previously reported patients with IKZF1HI, IKZF1DN, and IKZF1DD and should therefore be considered as a novel IKAROS-associated disease entity. This condition is characterized by immune dysregulation manifestations including inflammation, autoimmunity, atopy, and polyclonal PC proliferation. Included primarily for LoF phenotype. Treatment: IVIG and BMT. Non-genetic confirmatory testing: immunoglobulin levels Sources: Expert list |
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| Genomic newborn screening: BabyScreen+ v0.1836 | APC | Zornitza Stark Classified gene: APC as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1836 | APC | Zornitza Stark Gene: apc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1835 | APC | Zornitza Stark Tag cancer tag was added to gene: APC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1752 | PCSK9 | Zornitza Stark Marked gene: PCSK9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1752 | PCSK9 | Zornitza Stark Gene: pcsk9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1752 | PCSK9 | Zornitza Stark Phenotypes for gene: PCSK9 were changed from Hypercholesterolemia to Hypercholesterolaemia, familial, 3, MIM# 603776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1751 | PCSK9 | Zornitza Stark Classified gene: PCSK9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1751 | PCSK9 | Zornitza Stark Gene: pcsk9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1750 | PCSK9 |
Zornitza Stark Tag for review tag was added to gene: PCSK9. Tag treatable tag was added to gene: PCSK9. Tag metabolic tag was added to gene: PCSK9. |
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| Genomic newborn screening: BabyScreen+ v0.1750 | PCSK9 | Zornitza Stark reviewed gene: PCSK9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 3, MIM# 603776; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1710 | PCDH15 | Zornitza Stark Tag deafness tag was added to gene: PCDH15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1710 | PCCB | Zornitza Stark Tag metabolic tag was added to gene: PCCB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1710 | PCCA | Zornitza Stark Tag metabolic tag was added to gene: PCCA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1710 | PCBD1 |
Zornitza Stark Tag treatable tag was added to gene: PCBD1. Tag metabolic tag was added to gene: PCBD1. |
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| Genomic newborn screening: BabyScreen+ v0.1710 | PC |
Zornitza Stark Tag treatable tag was added to gene: PC. Tag metabolic tag was added to gene: PC. |
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| Genomic newborn screening: BabyScreen+ v0.1710 | NPC2 |
Zornitza Stark Tag treatable tag was added to gene: NPC2. Tag metabolic tag was added to gene: NPC2. |
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| Genomic newborn screening: BabyScreen+ v0.1710 | NPC1 |
Zornitza Stark Tag treatable tag was added to gene: NPC1. Tag metabolic tag was added to gene: NPC1. |
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| 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+ v0.1698 | G6PC | Zornitza Stark Tag metabolic tag was added to gene: G6PC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1632 | ARPC1B | Zornitza Stark Tag immunological tag was added to gene: ARPC1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1138 | TRAPPC2 | Zornitza Stark Marked gene: TRAPPC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1138 | TRAPPC2 | Zornitza Stark Gene: trappc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1138 | TRAPPC2 | Zornitza Stark Phenotypes for gene: TRAPPC2 were changed from Spondyloepiphyseal dysplasia tarda to Spondyloepiphyseal dysplasia tarda MIM#313400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1137 | TRAPPC2 | Zornitza Stark Publications for gene: TRAPPC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1136 | TRAPPC2 | Zornitza Stark Classified gene: TRAPPC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1136 | TRAPPC2 | Zornitza Stark Gene: trappc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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+ v0.1121 | TRAPPC2 | Lilian Downie reviewed gene: TRAPPC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301324; Phenotypes: Spondyloepiphyseal dysplasia tarda MIM#313400; 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+ v0.866 | NPC2 | Zornitza Stark Tag for review was removed from gene: NPC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.866 | APC | Zornitza Stark Classified gene: APC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.866 | APC | Zornitza Stark Gene: apc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.865 | APC | Zornitza Stark Tag for review was removed from gene: APC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.862 | PCBD1 | Zornitza Stark Tag for review was removed from gene: PCBD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.805 | PCNT | Zornitza Stark Marked gene: PCNT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.805 | PCNT | Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.805 | PCNT | Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism type 2 to Microcephalic osteodysplastic primordial dwarfism, type II, 210720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.804 | PCNT | Zornitza Stark Classified gene: PCNT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.804 | PCNT | Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.803 | PCDH15 | Zornitza Stark Marked gene: PCDH15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.803 | PCDH15 | Zornitza Stark Gene: pcdh15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.803 | PCDH15 | Zornitza Stark Phenotypes for gene: PCDH15 were changed from Usher syndrome to Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.802 | PCNT | David Amor reviewed gene: PCNT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, 210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.802 | PCDH15 | David Amor reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533; 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+ v0.749 | PCBD1 | Zornitza Stark Tag for review tag was added to gene: PCBD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.734 | PC | Zornitza Stark Marked gene: PC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.734 | PC | Zornitza Stark Gene: pc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.734 | PC | Zornitza Stark Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, MIM# 266150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.733 | PC | Zornitza Stark Publications for gene: PC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.732 | PC | Zornitza Stark reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, MIM# 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.730 | NPC2 | Zornitza Stark Tag for review tag was added to gene: NPC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.725 | SFTPC | Zornitza Stark Classified gene: SFTPC as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.725 | SFTPC | Zornitza Stark Gene: sftpc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.724 | SFTPC | Zornitza Stark Tag for review was removed from gene: SFTPC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.721 | PCBD1 | Zornitza Stark Tag for review was removed from gene: PCBD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.721 | NPC1 | Zornitza Stark Tag for review was removed from gene: NPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.719 | PC | John Christodoulou reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301764; Phenotypes: lactic acidosis, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.719 | NPC2 | John Christodoulou reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: cholestatic jaundice in infancy, gaze palsy, ID, dystonia, progressive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.719 | NPC1 | John Christodoulou reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: hepatosplenomegaly, cholestatic jaundice, gaze palsy, ID, dystonia, dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.669 | SFTPC | Zornitza Stark Tag for review tag was added to gene: SFTPC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.669 | SFTPC | Zornitza Stark reviewed gene: SFTPC: Rating: RED; 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+ v0.651 | 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+ v0.591 | 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+ v0.583 | 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+ v0.490 | 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+ v0.485 | 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+ v0.452 | 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+ v0.392 | 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+ v0.388 | 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. |
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| 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+ v0.274 | 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 | 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 | 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+ v0.199 | 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+ v0.130 | 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+ v0.125 | 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+ v0.105 | 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+ v0.0 | 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 |
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| 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 |
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| 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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | EPCAM |
Zornitza Stark gene: EPCAM was added gene: EPCAM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EPCAM were set to Lynch syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | PCSK9 |
Zornitza Stark gene: PCSK9 was added gene: PCSK9 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PCSK9 were set to Hypercholesterolemia |
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| Genomic newborn screening: BabyScreen+ v0.0 | XPC |
Zornitza Stark gene: XPC was added gene: XPC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPC were set to Xeroderma pigmentosum |
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| Genomic newborn screening: BabyScreen+ v0.0 | TRAPPC2 |
Zornitza Stark gene: TRAPPC2 was added gene: TRAPPC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda |
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| Genomic newborn screening: BabyScreen+ v0.0 | SFTPC |
Zornitza Stark gene: SFTPC was added gene: SFTPC was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SFTPC were set to Interstitial lung disease; Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620 |
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| Genomic newborn screening: BabyScreen+ v0.0 | PCNT |
Zornitza Stark gene: PCNT was added gene: PCNT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism type 2 |
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| Genomic newborn screening: BabyScreen+ v0.0 | PCDH15 |
Zornitza Stark gene: PCDH15 was added gene: PCDH15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCDH15 were set to Usher syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | PCCB |
Zornitza Stark gene: PCCB was added gene: PCCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCB were set to Propionicacidemia |
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| Genomic newborn screening: BabyScreen+ v0.0 | PCCA |
Zornitza Stark gene: PCCA was added gene: PCCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCA were set to Propionic acidaemia, MIM#606054 |
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| Genomic newborn screening: BabyScreen+ v0.0 | PCBD1 |
Zornitza Stark gene: PCBD1 was added gene: PCBD1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 |
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| Genomic newborn screening: BabyScreen+ v0.0 | PC |
Zornitza Stark gene: PC was added gene: PC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency |
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| Genomic newborn screening: BabyScreen+ v0.0 | NPC2 |
Zornitza Stark gene: NPC2 was added gene: NPC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2, MIM#607625 |
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| Genomic newborn screening: BabyScreen+ v0.0 | NPC1 |
Zornitza Stark gene: NPC1 was added gene: NPC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, MIM#257220 |
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| Genomic newborn screening: BabyScreen+ v0.0 | MYBPC1 |
Zornitza Stark gene: MYBPC1 was added gene: MYBPC1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYBPC1 were set to 23873045; 20045868; 22610851; 26661508; 31025394; 31264822 Phenotypes for gene: MYBPC1 were set to Myopathy, congenital, with tremor MIM#618524; Lethal congenital contracture syndrome 4, MIM# 614915; Arthrogryposis, distal, type 1B 614335 |
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| 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 |
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| 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 |
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| 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 |
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| Genomic newborn screening: BabyScreen+ v0.0 | G6PC |
Zornitza Stark gene: G6PC was added gene: G6PC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, MIM#232200 |
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| Genomic newborn screening: BabyScreen+ v0.0 | ARPC1B |
Zornitza Stark gene: ARPC1B was added gene: ARPC1B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718 |
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| Genomic newborn screening: BabyScreen+ v0.0 | APC |
Zornitza Stark gene: APC was added gene: APC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APC were set to Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated |
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