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| BabyScreen+ newborn screening v0.2052 | TNFAIP3 |
Lilian Downie gene: TNFAIP3 was added gene: TNFAIP3 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNFAIP3 were set to PMID: 31587140, PMID: 33101300 Phenotypes for gene: TNFAIP3 were set to Autoinflammatory syndrome, familial, Behcet-like 1 MIM#616744 Review for gene: TNFAIP3 was set to RED Added comment: Average age of onset 5yrs - too variable re age of onset. painful and recurrent mucosal ulceration affecting the oral mucosa, gastrointestinal tract, and genital areas. The onset of symptoms is usually in the first decade, although later onset has been reported. Additional more variable features include skin rash, uveitis, and polyarthritis, consistent with a systemic hyperinflammatory state. Many patients have evidence of autoimmune disease. Rare patients may also have concurrent features of immunodeficiency, including recurrent infections with low numbers of certain white blood cells or impaired function of immune cells. Treatment: Colchicine, glucocorticoid, mesalazine, cyclosporine, methotrexate, azathioprine, anakinra, rituximab, tocilizumab, infliximab Sources: Expert list |
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| BabyScreen+ newborn screening v0.2007 | IL2RA |
Zornitza Stark gene: IL2RA was added gene: IL2RA was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: IL2RA. Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL2RA were set to Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367 Review for gene: IL2RA was set to GREEN Added comment: Immunodeficiency-41 is a disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation. At least 4 unrelated families reported. Treatment: rapamycin, bone marrow transplant. Confirmatory non-genetic testing: flow cytometric analysis. Sources: Expert list |
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| BabyScreen+ newborn screening v0.2005 | IL21R |
Zornitza Stark gene: IL21R was added gene: IL21R was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: IL21R. Mode of inheritance for gene: IL21R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL21R were set to Immunodeficiency 56, MIM# 615207 Review for gene: IL21R was set to GREEN Added comment: Biallelic inactivating mutations in IL21R causes a combined immunodeficiency that is often complicated by cryptosporidium infections. More than 20 individuals reported. Recent series of 13 individuals: the main clinical manifestations were recurrent bacterial (84.6%), fungal (46.2%), and viral (38.5%) infections; cryptosporidiosis-associated cholangitis (46.2%); and asthma (23.1%). Inflammatory skin diseases (15.3%) and recurrent anaphylaxis (7.9%) constitute novel phenotypes of this combined immunodeficiency. Most patients exhibited hypogammaglobulinaemia and reduced proportions of memory B cells, circulating T follicular helper cells, MAIT cells and terminally differentiated NK cells. However, IgE levels were elevated in 50% of IL-21R-deficient patients. Onset: infancy/early childhood. Treatment: BMT. Non-genetic confirmatory testing: immunoglobulin levels. Sources: Expert list |
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| BabyScreen+ newborn screening v0.1961 | GH1 |
Zornitza Stark gene: GH1 was added gene: GH1 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type IA, MIM# 262400; Growth hormone deficiency, isolated, type II, MIM# 173100; Kowarski syndrome, MIM# 262650 Review for gene: GH1 was set to GREEN Added comment: Well established gene-disease association. Congenital onset. Treatment: growth hormone. Non-genetic confirmatory test: growth hormone stimulation test Sources: Expert list |
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| BabyScreen+ newborn screening v0.1939 | DNAJC21 |
Zornitza Stark gene: DNAJC21 was added gene: DNAJC21 was added to Baby Screen+ newborn screening. Sources: Expert Review Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687 Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052 Review for gene: DNAJC21 was set to GREEN Added comment: Onset of pancytopenia in early childhood; variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies. Treatment: oral pancreatic enzymes, fat-soluble vitamins, blood and/or platelet transfusions, granulocyte-colony stimulation factor, bone marrow transplant Confirmatory non-genetic testing: no; FBE as pancytopenia evolves. Sources: Expert Review |
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| BabyScreen+ newborn screening v0.1883 | PRDX1 |
Lilian Downie gene: PRDX1 was added gene: PRDX1 was added to gNBS. Sources: Expert list Mode of inheritance for gene: PRDX1 was set to Other Publications for gene: PRDX1 were set to PMID: 20301503, PMID: 29396438, PMID: 34215320, PMID: 33982424 Phenotypes for gene: PRDX1 were set to Methylmalonic aciduria and homocystinuria, cblC type, digenic MIM#277400 Review for gene: PRDX1 was set to GREEN Added comment: Digenic inheritance with mutation in other allele of MMACHC On GUARDIAN and Rx genes list Recently, three individuals who are double heterozygous for pathogenic variants in MMACHC and PRDX1 have been identified. PRDX1 is a neighboring gene on chromosome 1 transcribed from the reverse strand. Variants identified in PRDX1 located at the intron 5 splice acceptor site caused skipping of exon 6, transcription of antisense MMACHC, and hypermethylation of the MMACHC promoter/exon 1, resulting in no gene expression from that allele [Guéant et al 2018]. Treatable with cobalamin, carnitine & diet. NB MMACHC is green on our list, on newborn screening. Sources: Expert list |
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| BabyScreen+ newborn screening v0.1748 | PRKAR1A |
Zornitza Stark edited their review of gene: PRKAR1A: Added comment: Rated as 'strong actionability' in paediatric patients by ClinGen, principally due to benefit from early detection of cardiac myxomas through surveillance. CNC is associated with skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Lentigines are the most common presenting feature of CNC and may be present at birth. Typically, they increase in number at puberty, fade after the fourth decade, but may still be evident in the eighth decade. Cutaneous myxomas appear between birth and the fourth decade. Cardiac myxomas may occur at a young age. Breast myxomas occur in females after puberty. Males and females may develop nipple myxomas at any age. In a minority of individuals, PPNAD presents in the first two to three years; in the majority, it presents in the second or third decade. LCCSCT often present in the first decade. Signs and symptoms of CNC may be present at birth, but the median age of diagnosis is 20 years. Most patients with CNC present with a mild increase in GH. However, clinically evident acromegaly is a relatively frequent manifestation of CNC, occurring in approximately 10% of adults at the time of presentation. Most individuals with CNC have a normal life span. However, because some die at an early age, the average life expectancy for individuals with CNC is 50 years. Causes of death include complications of cardiac myxoma (myxoma emboli, cardiomyopathy, cardiac arrhythmia, and surgical intervention), metastatic or intracranial PMS, thyroid carcinoma, and metastatic pancreatic and testicular tumors. The only preventive measure in an asymptomatic individual is surgical removal of a heart tumor (cardiac myxoma) prior to the development of heart dysfunction, stroke, or other embolism. Cardiac myxomas should be diagnosed early through regular screening. Development of metabolic abnormalities from Cushing syndrome or arthropathy and other complications from acromegaly may be prevented by medical or surgical treatment of the respective endocrine manifestations. The overall penetrance of CNC in those with a PRKAR1A pathogenic variant is greater than 95% by age 50 years. 30-60% have cardiac myxomas.; Changed rating: GREEN; Changed phenotypes: Carney complex, type 1, MIM# 160980 |
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| BabyScreen+ newborn screening v0.1670 | TGM5 | Zornitza Stark Phenotypes for gene: TGM5 were changed from Peeling skin syndrome, acral type to Peeling skin syndrome 2, MIM# 609796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1668 | TGM5 | Zornitza Stark reviewed gene: TGM5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 2, MIM# 609796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1589 | PNKD | Zornitza Stark Phenotypes for gene: PNKD were changed from Paroxysmal nonkinesiogenic dyskinesia to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1587 | PNKD | Zornitza Stark reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1468 | RAI1 | Zornitza Stark Phenotypes for gene: RAI1 were changed from Smith-Magenis syndrome; Potocki-Lupski syndrome to Smith-Magenis syndrome (MIM#182290) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1425 | DMD |
Zornitza Stark changed review comment from: Well established gene-disease association. Milder phenotypes such as BMD and DCM are also associated with variants in this gene. Females typically at risk for cardiac disease only. Onset in early childhood. Treatment: Eteplirsen, Casimersen and Golodirsen for exon skipping 51, 45 and 53, respectively. Vitolarsen has also been approved for exon 53 skipping. Pilots are underway to assess NBS for DMD, including one planned in NSW. Most programs are based on raised CK levels. For review.; to: Well established gene-disease association. Milder phenotypes such as BMD and DCM are also associated with variants in this gene. Females typically at risk for cardiac disease only. Onset in early childhood. Treatment: Eteplirsen, Casimersen and Golodirsen for exon skipping 51, 45 and 53, respectively. Vitolarsen has also been approved for exon 53 skipping. Pilots are underway to assess NBS for DMD, including one planned in NSW. Most programs are based on raised CK levels. For review. Discuss with neurology. Should we only report variants that are likely to benefit from treatment? |
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| BabyScreen+ newborn screening v0.1377 | RSPH4A | Zornitza Stark Phenotypes for gene: RSPH4A were changed from Ciliary dyskinesia, primary to Ciliary dyskinesia, primary, 11 (MIM#612649) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1375 | RSPH4A | Zornitza Stark reviewed gene: RSPH4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 11 (MIM#612649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1375 | RSPH9 | Zornitza Stark Phenotypes for gene: RSPH9 were changed from Ciliary dyskinesia, primary to Ciliary dyskinesia, primary, 12 (MIM#612650) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1373 | RSPH9 | Zornitza Stark reviewed gene: RSPH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.885 | DNAI1 | Zornitza Stark Phenotypes for gene: DNAI1 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.883 | DNAI1 | Zornitza Stark reviewed gene: DNAI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.883 | DNAH5 | Zornitza Stark Phenotypes for gene: DNAH5 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.881 | DNAH5 | Zornitza Stark reviewed gene: DNAH5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.881 | DNAH11 | Zornitza Stark Phenotypes for gene: DNAH11 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.879 | DNAH11 | Zornitza Stark reviewed gene: DNAH11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.879 | DNAAF1 | Zornitza Stark Phenotypes for gene: DNAAF1 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 13, MIM# 613193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.877 | DNAAF1 | Zornitza Stark reviewed gene: DNAAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 13, MIM# 613193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.710 | SKI | Seb Lunke Marked gene: SKI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.710 | SKI | Seb Lunke Gene: ski has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.710 | SKI | Seb Lunke Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome to Shprintzen-Goldberg syndrome, MIM#182212 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.709 | SKI | Seb Lunke Classified gene: SKI as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.709 | SKI | Seb Lunke Gene: ski has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.708 | SKI | Seb Lunke reviewed gene: SKI: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.612 | CDSN | Zornitza Stark Phenotypes for gene: CDSN were changed from Hypotrichosis to Peeling skin syndrome 1, MIM#270300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.609 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.583 | CCDC40 | Zornitza Stark Phenotypes for gene: CCDC40 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 15, MIM#613808 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.581 | CCDC40 | Zornitza Stark reviewed gene: CCDC40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 15, MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.581 | CCDC39 | Zornitza Stark Phenotypes for gene: CCDC39 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 14, MIM# 613807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.579 | CCDC39 | Zornitza Stark reviewed gene: CCDC39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 14, MIM# 613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.502 | GAA |
Alison Yeung changed review comment from: Well establishes gene-disease association Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy Severity: Infantile form fatal in first year of life if untreated Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills; to: Well establishes gene-disease association Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy Severity: Infantile form fatal in first year of life if untreated Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills Non-molecular confirmatory test: enzyme activity analysis |
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| BabyScreen+ newborn screening v0.250 | LRRC6 | Zornitza Stark Phenotypes for gene: LRRC6 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 19, MIM# 614935 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.248 | LRRC6 | Zornitza Stark reviewed gene: LRRC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.205 | LRRC6 | David Amor reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.138 | ATP6V0A2 | Zornitza Stark Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.136 | ATP6V0A2 | Zornitza Stark reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.125 | ARMC4 | Zornitza Stark Phenotypes for gene: ARMC4 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 23, MIM# 615451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.123 | ARMC4 | Zornitza Stark reviewed gene: ARMC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 23, MIM# 615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | NME8 |
Zornitza Stark gene: NME8 was added gene: NME8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NME8 were set to Ciliary dyskinesia, primary |
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| BabyScreen+ newborn screening v0.0 | HYDIN |
Zornitza Stark gene: HYDIN was added gene: HYDIN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYDIN were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAL1 |
Zornitza Stark gene: DNAL1 was added gene: DNAL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAL1 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAI2 |
Zornitza Stark gene: DNAI2 was added gene: DNAI2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI2 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAAF5 |
Zornitza Stark gene: DNAAF5 was added gene: DNAAF5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAAF3 |
Zornitza Stark gene: DNAAF3 was added gene: DNAAF3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF3 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAAF2 |
Zornitza Stark gene: DNAAF2 was added gene: DNAAF2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF2 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | CCDC103 |
Zornitza Stark gene: CCDC103 was added gene: CCDC103 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC103 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | ADAM17 |
Zornitza Stark gene: ADAM17 was added gene: ADAM17 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAM17 were set to Neonatal inflammatory skin and bowel disease |
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| BabyScreen+ newborn screening v0.0 | TGM5 |
Zornitza Stark gene: TGM5 was added gene: TGM5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM5 were set to Peeling skin syndrome, acral type |
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| BabyScreen+ newborn screening v0.0 | SKI |
Zornitza Stark gene: SKI was added gene: SKI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome |
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| BabyScreen+ newborn screening v0.0 | RSPH9 |
Zornitza Stark gene: RSPH9 was added gene: RSPH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary |
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| BabyScreen+ newborn screening v0.0 | RSPH4A |
Zornitza Stark gene: RSPH4A was added gene: RSPH4A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary |
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| BabyScreen+ newborn screening v0.0 | RAI1 |
Zornitza Stark gene: RAI1 was added gene: RAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAI1 were set to Smith-Magenis syndrome; Potocki-Lupski syndrome |
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| BabyScreen+ newborn screening v0.0 | PNKD |
Zornitza Stark gene: PNKD was added gene: PNKD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PNKD were set to Paroxysmal nonkinesiogenic dyskinesia |
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| BabyScreen+ newborn screening v0.0 | LRRC6 |
Zornitza Stark gene: LRRC6 was added gene: LRRC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRRC6 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAI1 |
Zornitza Stark gene: DNAI1 was added gene: DNAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAH5 |
Zornitza Stark gene: DNAH5 was added gene: DNAH5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH5 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAH11 |
Zornitza Stark gene: DNAH11 was added gene: DNAH11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAAF1 |
Zornitza Stark gene: DNAAF1 was added gene: DNAAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | CCDC40 |
Zornitza Stark gene: CCDC40 was added gene: CCDC40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | CCDC39 |
Zornitza Stark gene: CCDC39 was added gene: CCDC39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | ARMC4 |
Zornitza Stark gene: ARMC4 was added gene: ARMC4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARMC4 were set to Primary ciliary dyskinesia |
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