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| Leukodystrophy - paediatric v0.112 | HEPACAM | Zornitza Stark Marked gene: HEPACAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.112 | HEPACAM | Zornitza Stark Gene: hepacam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.112 | HEPACAM | Zornitza Stark Classified gene: HEPACAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.112 | HEPACAM | Zornitza Stark Gene: hepacam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.111 | HEPACAM |
Zornitza Stark gene: HEPACAM was added gene: HEPACAM was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: HEPACAM was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: HEPACAM were set to 21419380; 21419380 Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926 Review for gene: HEPACAM was set to GREEN Added comment: Multiple families reported with both mono-allelic and bi-allelic disease; bi-allelic disease is generally more severe. Onset is typically in infancy. Sources: Expert list |
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