Genes

For each gene referenced in the transcripts in the positions section, there is a matching entry in the genes section. The following example shows gene-level annotations from gnomAD, ClinGen Dosage Sensitivity Map, and OMIM.

"genes": [

{

"name": "AGRN",

"gnomAD": {

"pLi": 5.47e-07,

"pRec": 1,

"pNull": 1.41e-12,

"synZ": -3.96,

"misZ": 0.226,

"loeuf": 0.435

},

"clingenDosageSensitivityMap": {

"haploinsufficiency": "gene associated with autosomal recessive phenotype",

"triplosensitivity": "no evidence to suggest that dosage sensitivity is associated with clinical phenotype"

},

"omim": [

{

"mimNumber": 103320,

"geneName": "Agrin",

"description": "The AGRN gene encodes agrin, a large and ubiquitous proteoglycan with multiple isoforms that have diverse functions in different tissues. Agrin was originally identified as an essential neural regulator that induces the aggregation of acetylcholine receptors (AChRs) and other postsynaptic proteins on muscle fibers and is crucial for the formation and maintenance of the neuromuscular junction (NMJ) (Campanelli et al., 1991; Burgess et al., 1999; summary by Maselli et al., 2012).",

"phenotypes": [

{

"mimNumber": 615120,

"phenotype": "Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects",

"description": "Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by Maselli et al., 2012).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A.",

"mapping": "molecular basis of the disorder is known",

"inheritances": [

"Autosomal recessive"

]

}

]

}

]

}

]

}