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| BabyScreen+ newborn screening v1.114 | TECTA | Tommy Li Added phenotypes Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543 for gene: TECTA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1982 | TOP2B |
Lilian Downie gene: TOP2B was added gene: TOP2B was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TOP2B were set to PMID: 31409799, PMID: 35063500, PMID: 32128574, PMID: 33459963 Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296 Review for gene: TOP2B was set to AMBER Added comment: congenital onset humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations Treatment immunoglobulin (only partially treats phenotype) no literature for evidence around immunoglobulin treatment. Suggest RED but maybe discuss with immunologist? Sources: Expert list |
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| BabyScreen+ newborn screening v0.1717 | TECTA | Zornitza Stark Marked gene: TECTA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1717 | TECTA | Zornitza Stark Gene: tecta has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1717 | TECTA | Zornitza Stark Phenotypes for gene: TECTA were changed from Deafness to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1716 | TECTA | Zornitza Stark Mode of inheritance for gene: TECTA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1715 | TECTA | Zornitza Stark Tag deafness tag was added to gene: TECTA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1710 | TECTA | David Amor reviewed gene: TECTA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 21, Deafness, autosomal dominant 8/12; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1561 | PIK3CA |
Zornitza Stark gene: PIK3CA was added gene: PIK3CA was added to gNBS. Sources: Expert list Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3CA were set to 33392635; 33639990 Phenotypes for gene: PIK3CA were set to PIK3CA related overgrowth spectrum Review for gene: PIK3CA was set to AMBER Added comment: Established association with a range of overgrowth phenotypes. Note variants are SOMATIC and may not be detectable reliably. Treatment: alpelisib, miransertib. Unsure if these are available. Sources: Expert list |
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| BabyScreen+ newborn screening v0.0 | TECTA |
Zornitza Stark gene: TECTA was added gene: TECTA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TECTA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TECTA were set to Deafness |
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