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| Genetic Epilepsy v0.1342 | NAGLU | Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1342 | NAGLU | Zornitza Stark Marked gene: NAGLU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1342 | NAGLU | Zornitza Stark Gene: naglu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1342 | NAGLU | Zornitza Stark Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920; ?Charcot-Marie-Tooth disease, axonal, type 2V - 616491; Seizures to Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920; Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1340 | NAGLU | Zornitza Stark Mode of inheritance for gene: NAGLU was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1339 | NAGLU | Zornitza Stark Classified gene: NAGLU as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1339 | NAGLU | Zornitza Stark Gene: naglu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1317 | NAGLU |
Krithika Murali gene: NAGLU was added gene: NAGLU was added to Genetic Epilepsy. Sources: Expert list,Literature Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NAGLU were set to 34396902; 25818867; 8650226 Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920; ?Charcot-Marie-Tooth disease, axonal, type 2V - 616491; Seizures Review for gene: NAGLU was set to GREEN Added comment: The association between bi-allelic variants and Sanfilippo B is well established. The disorder is characterized by the accumulation of heparan sulfate, resulting in progressive neurodegeneration, behavioural problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe. Seizures have been reported in affected individuals. Two families reported with mono-allelic variants and CMT. Sources: Expert list, Literature |
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