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Severe Paediatric Disorders v1.167 | SLC22A5 | Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | TECTA | Louise Daugherty reviewed gene: TECTA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | TECTA | Louise Daugherty Publications for gene TECTA were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | TECTA | Louise Daugherty Added phenotypes Deafness, autosomal recessive 21, 603629; Deafness, autosomal dominant 8/12, 601543 for gene: TECTA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TECTA | Louise Daugherty Added phenotypes Deafness, autosomal recessive 21, 603629; Deafness, autosomal dominant 8/12, 601543 for gene: TECTA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TECTA | Louise Daugherty Added phenotypes Deafness, autosomal recessive 21, 603629; Deafness, autosomal dominant 8/12, 601543 for gene: TECTA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TECTA | Louise Daugherty Added phenotypes Deafness, autosomal recessive 21, 603629; Deafness, autosomal dominant 8/12, 601543 for gene: TECTA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TECTA |
Louise Daugherty Mode of inheritance for gene TECTA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Deafness, autosomal recessive 21, 603629; Deafness, autosomal dominant 8/12, 601543 for gene: TECTA |
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Severe Paediatric Disorders v0.7 | TECTA | Louise Daugherty Source Next Generation Children Project was added to TECTA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | TECTA |
Louise Daugherty Source Expert Review Green was added to TECTA. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | TECTA |
Louise Daugherty gene: TECTA was added gene: TECTA was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TECTA was set to |