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Severe Paediatric Disorders v0.12 | NAGLU | Louise Daugherty reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | NAGLU | Louise Daugherty Publications for gene NAGLU were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | NAGLU | Louise Daugherty Mode of inheritance for gene NAGLU was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | NAGLU | Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 for gene: NAGLU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | NAGLU | Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 for gene: NAGLU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | NAGLU | Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 for gene: NAGLU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | NAGLU | Louise Daugherty Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 for gene: NAGLU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | NAGLU | Louise Daugherty Source Next Generation Children Project was added to NAGLU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | NAGLU |
Louise Daugherty Source Expert Review Green was added to NAGLU. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | NAGLU |
Louise Daugherty gene: NAGLU was added gene: NAGLU was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: NAGLU was set to |