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Leukodystrophy - paediatric v0.168 | LAMB1 | Zornitza Stark Marked gene: LAMB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.168 | LAMB1 | Zornitza Stark Gene: lamb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.168 | LAMB1 | Zornitza Stark Classified gene: LAMB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.168 | LAMB1 | Zornitza Stark Gene: lamb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.167 | LAMB1 |
Zornitza Stark gene: LAMB1 was added gene: LAMB1 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB1 were set to 29888467; 25925986 Phenotypes for gene: LAMB1 were set to Cystic leukoencephalopathy Review for gene: LAMB1 was set to AMBER Added comment: Two unrelated families reported with cystic leukoencephalopathy and bi-allelic variants in this gene. Also note adult-onset leukodystrophy reported in one individual. Sources: Literature |