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Hearing loss

Gene: LAMA2

Red List (low evidence)

LAMA2 (laminin subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000196569
EnsemblGeneIds (GRCh37): ENSG00000196569
OMIM: 156225, Gene2Phenotype
LAMA2 is in 8 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#607855:Muscular dystrophy, congenital, due to partial LAMA2 deficiency[Ophthalmoplegia (in some patients); Respiratory muscle weakness; Feeding difficulties; Kyphoscoliosis (in some patients); Joint contractures; Muscle weakness, severe, axial and proximal predominanceHypotoniaAreflexia due to muscle weaknessDelayed motor developmentEMG shows myopathic changesMuscle biopsy shows dystrophic changesAbsence of merosin in muscleAbsence of laminin alpha-2 chain in muscleIncreased endomysial connective tissue around muscle fibers; White matter hypodensities seen on MRIAbnormal cortical gyrationSeizures (rare)Mental retardation (rare); Increased creatine kinase]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMA2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert