White matter disorders and cerebral calcification - narrow panel
Gene: LMNB1EnsemblGeneIds (GRCh38): ENSG00000113368
EnsemblGeneIds (GRCh37): ENSG00000113368
OMIM: 150340, Gene2Phenotype
LMNB1 is in 8 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500
- OMIM
- 150340
- Clinvar variants
- Variants in LMNB1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LMNB1 were changed from Leukodystrophy,adult-onset, autosomal dominant,169500; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Adult onset autosomal dominant leukodystrophy (ADLD) to Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: LMNB1 was added gene: LMNB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNB1 were set to 21225301; 25655951; 21909802 Phenotypes for gene: LMNB1 were set to Leukodystrophy,adult-onset, autosomal dominant,169500; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Adult onset autosomal dominant leukodystrophy (ADLD) Mode of pathogenicity for gene: LMNB1 was set to Other - please provide details in the comments