Epidermolysis bullosa

Gene: LAMA3

Green List (high evidence)

LAMA3 (laminin subunit alpha 3)
EnsemblGeneIds (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 literature
Created: 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/OMIM
Created: 24 Apr 2017, 2:03 p.m.

John McGrath (King's College London)

Green List (high evidence)

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 debatable
Created: 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

25 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

24 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

24 Apr 2017, Gel status: 1

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

24 Apr 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for LAMA3 were set to 12915477;8618022;20301304;11810295;8586427; 8530087;8618022

24 Apr 2017, Gel status: 1

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

24 Apr 2017, Gel status: 1

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

28 Oct 2015, Gel status: 1

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

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LAMA3 was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMA3 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing