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| BabyScreen+ newborn screening v0.1977 | HSD11B2 |
Zornitza Stark gene: HSD11B2 was added gene: HSD11B2 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: HSD11B2. Mode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD11B2 were set to Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025 Review for gene: HSD11B2 was set to GREEN Added comment: Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone. More than 10 unrelated families reported. Onset is usually in infancy or early childhood. Non-genetic confirmatory testing: aldosterone, renin, potassium levels Sources: Expert list |
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| BabyScreen+ newborn screening v0.1478 | RAG1 | Zornitza Stark Phenotypes for gene: RAG1 were changed from Omenn syndrome, MIM#603554 to Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1477 | RAG1 | Zornitza Stark reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889, Combined cellular and humoral immune defects with granulomas MIM# 233650, Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.389 | XPA | Zornitza Stark Marked gene: XPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.389 | XPA | Zornitza Stark Gene: xpa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.389 | XPA | Zornitza Stark Phenotypes for gene: XPA were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group A MIM#278700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.388 | XPA |
Zornitza Stark Tag treatable tag was added to gene: XPA. Tag clinical trial tag was added to gene: XPA. |
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| BabyScreen+ newborn screening v0.274 | XPA | Lilian Downie reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A MIM#278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | XPA |
Zornitza Stark gene: XPA was added gene: XPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPA were set to Xeroderma pigmentosum |
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