Corneal abnormalities
Gene: LAMB2
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
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.
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
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for LAMB2 were set to Pierson syndrome 609049
Mode of inheritance for LAMB2 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for LAMB2 were set to 15367484; 14136829; 16097004
Publications for LAMB2 were set to 15367484; 14136829; 16097004;16912710
Publications for LAMB2 were set to 15367484; 14136829;16097004
Publications for LAMB2 were set to 15367484;14136829
LAMB2 was created by ellenmcdonagh
LAMB2 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel