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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
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)
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