Epidermolysis bullosa
Gene: LAMA3Comment 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.
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
Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
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
Publications for LAMA3 were set to 12915477;8618022;20301304;11810295;8586427; 8530087;8618022
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
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
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
LAMA3 was created by ellenmcdonagh
LAMA3 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing