Corneal abnormalities

Gene: LAMB2

Red List (low evidence)

LAMB2 (laminin subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000172037
EnsemblGeneIds (GRCh37): ENSG00000172037
OMIM: 150325, Gene2Phenotype
LAMB2 is in 8 panels

3 reviews

Chris Campbell (GEL)

Green List (high evidence)

Feedback from Manchester Centre for Genomic Medicine; not enough evidence to go in corneal abnormalities panel. Mutations in LAMB2 associated with Pierson syndrome.
Created: 3 Mar 2017, 10:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group - unsure whether this syndrome should be included on this panel - awaiting confirmation.
Created: 22 Feb 2017, 10:48 a.m.
Comment on list classification: Expert review green, and more than 3 cases/families reported.
Created: 21 Feb 2017, 10:17 a.m.

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pierson syndrome (Microcoria, AR)

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GDL Corneal Abnormalities panel
Phenotypes
  • Pierson syndrome 609049
OMIM
150325
Clinvar variants
Variants in LAMB2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 1

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

3 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Red List (Low Evidence).

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Feb 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for LAMB2 were set to Pierson syndrome 609049

21 Feb 2017, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for LAMB2 was changed to BIALLELIC, autosomal or pseudoautosomal

21 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LAMB2 were set to 15367484; 14136829; 16097004

21 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LAMB2 were set to 15367484; 14136829; 16097004;16912710

21 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LAMB2 were set to 15367484; 14136829;16097004

21 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LAMB2 were set to 15367484;14136829

19 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LAMB2 was created by ellenmcdonagh

19 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMB2 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel