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  3. LMNB1
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Fetal anomalies

Gene: LMNB1

Green List (high evidence)
LMNB1 (lamin B1)
EnsemblGeneIds (GRCh38): ENSG00000113368
EnsemblGeneIds (GRCh37): ENSG00000113368
OMIM: 150340, Gene2Phenotype
LMNB1 is in 8 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Created: 3 Nov 2021, 1:56 p.m. | Last Modified: 3 Nov 2021, 1:56 p.m.
Panel Version: 1.772
Created: 3 Nov 2021, 1:56 p.m.
Last Modified: 3 Nov 2021, 1:56 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Severe microcephaly (pending)

Details of review:
Parry et al 2020 (PMID: 33033404) report on a cohort from DDD and 100k genomes studies: 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6) - phenotype of severe congenital microcephaly and ID (otherwise non-syndromic).
Sources: Literature, Expert Review
Created: 29 Oct 2021, 3:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microcephaly 26, primary, autosomal dominant

Publications

Created: 29 Oct 2021, 3:44 p.m.

Panel version: 1.749

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Microcephaly 26, primary, autosomal dominant, OMIM:619179
OMIM
150340
Clinvar variants
Variants in LMNB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: LMNB1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to LMNB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Nov 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: LMNB1 were set to PMID: 33033404

3 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: LMNB1 were changed from Microcephaly 26, primary, autosomal dominant to Microcephaly 26, primary, autosomal dominant, OMIM:619179

3 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: lmnb1 has been classified as Amber List (Moderate Evidence).

3 Nov 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: LMNB1.

29 Oct 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: LMNB1 was added gene: LMNB1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNB1 were set to PMID: 33033404 Phenotypes for gene: LMNB1 were set to Microcephaly 26, primary, autosomal dominant Review for gene: LMNB1 was set to GREEN