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Hearing loss

Gene: LARGE1

Red List (low evidence)

LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 19 panels

2 reviews

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 3:32 p.m.

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#608840:Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6[Short stature; Facial weakness, mild; Nystagmus, horizontalDecreased electroretinogram (ERG) response; Tongue hypertrophy; Elbow contractures, mildAchilles tendon contractures, mild; Flexed fingers; HypotoniaMuscle weakness, predominantly proximalLower limbs more affected than upper limbsDelayed motor developmentAcquire ability to walk and jump in childhood, but motor regression occurs laterMuscle hypertrophyEMG shows myopathic changesDecreased glycosylation of alpha-dystroglycan; Developmental delay, globalMental retardation, moderate to profoundLower limb hyperreflexia (reported in 1 patient)Extensor plantar responses (reported in 1 patient)Periventricular white matter changesAbnormal neuronal migrationHypoplastic brainstemPachygyria, frontoparietalCerebellar hypoplasia; Increased serum creatine kinase]; #613154:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6[Retinal dysplasiaOptic atrophyCataract; Contractures; Widened anterior fontanelles; Hypotonia, severeMuscular dystrophyMuscle biopsy shows decreased glycosylation of alpha-dystroglycan (DAG1,); Mental retardationAreflexiaCobblestone lissencephalyVentricular dilatationAbsence of the cerebellar vermisHypoplasia of the cerebellumDysplastic cerebellumHydrocephalusWhite matter changesPontine hypoplasiaDandy-Walker malformation (in 1 of 4 patients); Increased serum creatine kinase]

Publications

History Filter Activity

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

LARGE was changed to LARGE1

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from LARGE. Panel: Congenital hearing impairment (profound/severe)

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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