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| Genomic newborn screening: BabyScreen+ v1.87 | PSTPIP1 |
Zornitza Stark gene: PSTPIP1 was added gene: PSTPIP1 was added to BabyScreen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: PSTPIP1. Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 Review for gene: PSTPIP1 was set to GREEN Added comment: Established gene-disease association. Onset in childhood. Treatment: adalimumab and tacrolimus, NSAIDs, corticosteroids, BMT non-genetic confirmatory testing: no Sources: Expert list |
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| Genomic newborn screening: BabyScreen+ v0.2161 | NLRP3 |
Zornitza Stark gene: NLRP3 was added gene: NLRP3 was added to Baby Screen+ newborn screening. Sources: Expert Review Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NLRP3 were set to 25038238 Phenotypes for gene: NLRP3 were set to Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200 Review for gene: NLRP3 was set to AMBER Added comment: Established gene-disease associations. Variants in this gene cause a spectrum of clinical phenotypes, ranging from onset in infancy to adult-onset, with variable severity. Genotype-phenotype correlation is unclear, hence not suitable for inclusion at this time. Treatment: corticosteroids, anakinra, rilonacept and canakinumab. Non-genetic confirmatory testing: no. Sources: Expert Review |
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| Genomic newborn screening: BabyScreen+ v0.2042 | OTULIN |
Zornitza Stark gene: OTULIN was added gene: OTULIN was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: OTULIN. Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 Review for gene: OTULIN was set to GREEN Added comment: Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP), leukocytosis, and neutrophilia in the absence of any infection. Onset is generally in infancy. Treatment: inflixiimab, anakinra, etanercept, corticosteroids. Non-genetic confirmatory testing: no. Sources: Expert list |
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| Genomic newborn screening: BabyScreen+ v0.2003 | IL1RN |
Zornitza Stark gene: IL1RN was added gene: IL1RN was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: IL1RN. Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, MIM# 612852 Review for gene: IL1RN was set to GREEN Added comment: Severe immunodeficiency, onset in infancy. Multi-system involvement, can be fatal if untreated. Treatment: anakinra, etanercept, methotrexate, corticosteroid Sources: Expert list |
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| Genomic newborn screening: BabyScreen+ v0.1992 | ICOS | Zornitza Stark Marked gene: ICOS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1992 | ICOS | Zornitza Stark Gene: icos has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1992 | ICOS | Zornitza Stark Classified gene: ICOS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1992 | ICOS | Zornitza Stark Gene: icos has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1991 | ICOS |
Zornitza Stark gene: ICOS was added gene: ICOS was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: ICOS. Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1 MIM# 607594 Review for gene: ICOS was set to GREEN Added comment: 15 affected individuals from 8 unrelated families reported with ICOS variants and displayed immunodeficiency, common variable, 1 phenotype; three mouse models. Homozygous and compound heterozygous deletion and missense variants, with the most frequent variant being a 442 nucleotide deletion. Patients typically presented with recurrent bacterial respiratory & gastrointestinal infections and low IgG/IgA. Congenital onset. Treatment: replacement immunoglobulin treatment, bone marrow transplant. Non-genetic confirmatory testing: immunoglobulin levels. Sources: Expert list |
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| Genomic newborn screening: BabyScreen+ v0.1982 | TNFRSF1A |
Lilian Downie gene: TNFRSF1A was added gene: TNFRSF1A was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TNFRSF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNFRSF1A were set to PMID: 11175303, PMID: 32066461, PMID: 29773275, PMID: 32831641 Phenotypes for gene: TNFRSF1A were set to Periodic fever, familial MIM#142680 Penetrance for gene: TNFRSF1A were set to Incomplete Review for gene: TNFRSF1A was set to RED Added comment: Strong gene disease association Childhood onset but age not consistently under 5 and cases of adult onset reports of variable penetrance Rx NSAIDs, corticosteroids, Etanercept , anakinra, canakinumab, tocilizumab because there is no non-molecular confirmatory test I think should be red for variability of age of onset and severity of symptoms. Sources: Expert list |
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| Genomic newborn screening: BabyScreen+ v0.1384 | RPS28 |
Zornitza Stark changed review comment from: Congenital onset. DBA is a treatable disorder: corticosteroids, red blood cell transfusion, BMT.; to: Two individuals reported in 2014, none since. Congenital onset. DBA is a treatable disorder: corticosteroids, red blood cell transfusion, BMT. |
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