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  2. Autonomic neuropathy
  3. LMNB1
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Autonomic neuropathy

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

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Autonomic dysfunction a common feature
Sources: Literature
Created: 11 Nov 2020, 6:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM# 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD

Variants in this GENE are reported as part of current diagnostic practice

Created: 11 Nov 2020, 6:25 a.m.

Panel version: 0.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT
  • ADLD
Tags
SV/CNV
OMIM
150340
Clinvar variants
Variants in LMNB1
Penetrance
None
Panels with this gene

History Filter Activity

21 Feb 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

11 Nov 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: LMNB1 was added gene: LMNB1 was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LMNB1 were set to OMIM# 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD Review for gene: LMNB1 was set to GREEN gene: LMNB1 was marked as current diagnostic