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  2. Leukodystrophy - adult onset
  3. LMNB1
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Leukodystrophy - adult onset

Gene: LMNB1

Green List (high evidence)
LMNB1 (lamin B1)
EnsemblGeneIds (GRCh38): ENSG00000113368
EnsemblGeneIds (GRCh37): ENSG00000113368
OMIM: 150340, Gene2Phenotype
LMNB1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 5 Jan 2020, 8:16 p.m.
Last Modified: 5 Jan 2020, 8:16 p.m.
Panel version: 0.141

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500
  • Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061
Tags
SV/CNV
OMIM
150340
Clinvar variants
Variants in LMNB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Jan 2025, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LMNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lmnb1 has been classified as Green List (High Evidence).

3 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LMNB1 were set to

3 May 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: LMNB1.

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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