Epidermolysis bullosa
Gene: LAMA3EnsemblGeneIds (GRCh38): ENSG00000053747
EnsemblGeneIds (GRCh37): ENSG00000053747
OMIM: 600805, Gene2Phenotype
LAMA3 is in 4 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Change status from red to green based on expert reviewer suggestion and evidence in the literatureCreated: 24 Apr 2017, 2:55 p.m.
Comment on publications: PMID:11810295 Epidermolysis bullosa, generalized atrophic benign. PMID:8586427, 8530087, 8618022 Herlitz junctional epidermolysis bullosa. PMID: 12915477; 8618022;20301304 Laryngoonychocutaneous syndrome Fewer than 50 cases have been reported to date, mostly in consanguineous families from the Punjabi region of Pakistan and India, likely to be founder affect.Created: 24 Apr 2017, 2:54 p.m.
Comment on phenotypes: reformatted and added suggestions from expert reviewer/OMIMCreated: 24 Apr 2017, 2:03 p.m.
John McGrath (King's College London)
LAMA3 - AR - severe generalised junctional EB (occasionally intermediate). LAMA3A - Autosomal Recessive - laryngo-onhycho-cutaneous syndrome - this is a longer form of LAMA3, so whether one actually lists it as a separate gene is debatableCreated: 19 Nov 2015, 3:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe generalised junctional Epidermolysis bullosa (occasionally intermediate); laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Eligibility statement prior genetic testing
- Phenotypes
-
- Epidermolysis bullosa, generalized atrophic benign, 226650
- Epidermolysis bullosa, junctional, non-Herlitz type
- Epidermolysis bullosa, junctional, Herlitz type, 226700
- Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
- Laryngoonychocutaneous syndrome, 245660
- Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform
- Shabbir syndrome
- Junctional Epidermolysis Bullosa
- OMIM
- 600805
- Clinvar variants
- Variants in LAMA3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for LAMA3 were set to Epidermolysis bullosa, generalized atrophic benign, 226650; Epidermolysis bullosa, junctional, non-Herlitz type; Epidermolysis bullosa, junctional, Herlitz type, 226700; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate); Laryngoonychocutaneous syndrome, 245660; Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform; Shabbir syndrome;Junctional Epidermolysis Bullosa
Set publications
Louise Daugherty (Genomics England Curator)Publications for LAMA3 were set to 12915477;8618022;20301304;11810295;8586427; 8530087;8618022
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for LAMA3 were set to Epidermolysis bullosa, generalized atrophic benign, 226650; Epidermolysis bullosa, junctional, non-Herlitz type; Epidermolysis bullosa, junctional, Herlitz type, 226700; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate); Laryngoonychocutaneous syndrome, 245660; Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform; Junctional Epidermolysis Bullosa
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for LAMA3 were set to Epidermolysis bullosa, generalized atrophic benign, 226650; Epidermolysis bullosa, junctional, Herlitz type, 226700; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate); Laryngoonychocutaneous syndrome, 245660; Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform; Junctional Epidermolysis Bullosa
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)LAMA3 was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)LAMA3 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)LAMA3 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing