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Leukodystrophy, adult onset v1.33 LMNB1 Arina Puzriakova Phenotypes for gene: LMNB1 were changed from Leukodystrophy, adult-onset, autosomal dominant, 169500 to Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500
Leukodystrophy, adult onset v0.19 LMNB1 David Lynch reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Leukodystrophy, adult onset v0.15 LMNB1 Catherine Snow Mode of inheritance for gene LMNB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leukodystrophy, adult-onset, autosomal dominant, 169500 for gene: LMNB1
Leukodystrophy, adult onset v0.14 LMNB1 Catherine Snow reviewed gene: LMNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, adult-onset, autosomal dominant, 169500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Leukodystrophy, adult onset v0.10 LMNB1 Louise Daugherty reviewed gene: LMNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Leukodystrophy, adult onset v0.9 LMNB1 Ian Berry reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Leukodystrophy, adult onset v0.8 LMNB1 Louise Daugherty Publications for gene LMNB1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Leukodystrophy, adult onset v0.7 LMNB1 Louise Daugherty Source Expert Review Green was added to LMNB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Leukodystrophy, adult onset v0.6 LMNB1 Louise Daugherty Source NHS GMS was added to LMNB1.
Leukodystrophy, adult onset v0.5 LMNB1 Louise Daugherty gene: LMNB1 was added
gene: LMNB1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: LMNB1 was set to