Research panel - Severe Paediatric Disorders
Gene: LAMA3

LAMA3 (laminin subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000053747
EnsemblGeneIds (GRCh37): ENSG00000053747
OMIM: 600805, Gene2Phenotype
LAMA3 is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: LAMA3; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epidermolysis bullosa, generalized atrophic benign, 226650 (3) | Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) | Laryngoonychocutaneous syndrome, 245660 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Epidermolysis bullosa, junctional, Herlitz type, 226700
Epidermolysis bullosa, generalized atrophic benign, 226650
Laryngoonychocutaneous syndrome, 245660

OMIM

600805

Clinvar variants

Variants in LAMA3

Penetrance

None

Publications

30847515

Panels with this gene