Epidermolysis bullosa and congenital skin fragility

Gene: LAMA3

Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Shabbir syndrome;Epidermolysis bullosa, junctional, non-Herlitz type;Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate);Junctional Epidermolysis Bullosa;Epidermolysis bullosa, generalized atrophic benign, 226650;Laryngoonychocutaneous syndrome, 245660

Created: 24 Mar 2021, 1:10 p.m. | Last Modified: 24 Mar 2021, 1:10 p.m.

Panel Version: 1.31

Note from John McGrath (email correspondance): The LAMA3 analysis also needs to include LAMA3A to cover the LOC syndrome mutation.

Created: 7 Jan 2019, 4:49 p.m.

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.

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