Corneal abnormalities
Gene: LAMB2EnsemblGeneIds (GRCh38): ENSG00000172037
EnsemblGeneIds (GRCh37): ENSG00000172037
OMIM: 150325, Gene2Phenotype
LAMB2 is in 8 panels
3 reviews
Chris Campbell (GEL)
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)
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
panel promoted to version 1
Chris Campbell (GEL)09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
Gene classified by Genomics England curator
Chris Campbell (GEL)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Chris Campbell (GEL)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Chris Campbell (GEL)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LAMB2 were set to Pierson syndrome 609049
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for LAMB2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LAMB2 were set to 15367484; 14136829; 16097004
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LAMB2 were set to 15367484; 14136829; 16097004;16912710
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LAMB2 were set to 15367484; 14136829;16097004
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LAMB2 were set to 15367484;14136829
Created
Ellen McDonagh (Genomics England Curator)LAMB2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)LAMB2 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel