Leukodystrophy - adult onset
Gene: LMNB1
Note structural variants such as duplications and upstream deletions.Created: 5 Jan 2020, 8:16 p.m. | Last Modified: 5 Jan 2020, 8:16 p.m.
Panel Version: 0.31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500; Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061
Publications
Phenotypes for gene: LMNB1 were changed from Leukodystrophy, adult-onset, autosomal dominant, 169500 to Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500; Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061
Mode of inheritance for gene: LMNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: lmnb1 has been classified as Green List (High Evidence).
Publications for gene: LMNB1 were set to
Tag SV/CNV tag was added to gene: LMNB1.
gene: LMNB1 was added gene: LMNB1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LMNB1 were set to Leukodystrophy, adult-onset, autosomal dominant, 169500