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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 v1.164 | SLC22A5 | Sarah Leigh Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.17 | IDUA | Louise Daugherty Mode of inheritance for gene IDUA was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | IDUA | Louise Daugherty reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | IDUA | Louise Daugherty Publications for gene IDUA were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | IDUA | Louise Daugherty Added phenotypes Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih, 607014 for gene: IDUA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | IDUA | Louise Daugherty Added phenotypes Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih, 607014 for gene: IDUA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | IDUA | Louise Daugherty Added phenotypes Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih, 607014 for gene: IDUA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | IDUA | Louise Daugherty Added phenotypes Mucopolysaccharidosis Ih, 607014; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis Is, 607016 for gene: IDUA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | IDUA | Louise Daugherty Source Next Generation Children Project was added to IDUA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | IDUA |
Louise Daugherty Source Expert Review Green was added to IDUA. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | IDUA |
Louise Daugherty gene: IDUA was added gene: IDUA was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: IDUA was set to |
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