CHRND Chromosome 2
Cholinergic receptor nicotinic delta subunit
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What This Gene Does
The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
Cholinergic receptors nicotinic subunits
Locus Type
gene with protein product
Location
2q37.1
Ensembl
ENSG00000135902
Associated Conditions (15)
Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
Inborn genetic diseases
Congenital myasthenic syndrome 3A
Congenital myasthenic syndrome 3B
Congenital myasthenic syndrome 3C
CHRND-related disorder
Slow-Channel Congenital Myasthenia Syndrome
Centronuclear myopathy
Ptosis
Breathing dysregulation
Muscle weakness
Dyspnea
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Key Variants
RS114463490
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
Health Risk
RS1352698710
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
Health Risk
RS138609765
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
Health Risk
RS139190636
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Inborn genetic diseases, Lethal multiple pterygium syndrome
Health Risk
RS139722128
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
Health Risk
RS142063328
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Congenital myasthenic syndrome 3A, Congenital myasthenic syndrome 3B
Health Risk
RS142531974
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
Health Risk
RS143246852
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
Health Risk
RS144310284
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
Health Risk
RS144433265
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
Health Risk
RS145955590
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 3C, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3B
Health Risk
RS146205427
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
Health Risk
All Variants (84)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060499782 | Health Risk | Likely pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1064795719 | Health Risk | Likely pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS121909502 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 3A, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3A |
| RS1285705072 | Health Risk | Likely pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1574630583 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita |
| RS1691557291 | Health Risk | Likely pathogenic | — |
| RS1691690923 | Health Risk | Likely pathogenic | — |
| RS2106205676 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3B |
| RS2469719176 | Health Risk | Likely pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS375623674 | Health Risk | Likely pathogenic | Lethal multiple pterygium syndrome, CHRND-related disorder, Lethal multiple pterygium syndrome |
| RS748559696 | Health Risk | Likely pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS751237539 | Health Risk | Likely pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS121909503 | Health Risk | Pathogenic | Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3B |
| RS121909504 | Health Risk | Pathogenic | Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3B |
| RS121909505 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3A |
| RS121909506 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS121909508 | Health Risk | Pathogenic | Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3B |
| RS1266948051 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1383559519 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1417363003 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1574630951 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS2469712512 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS2469718292 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS2469723376 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS750174953 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS764374927 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS775873824 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS879255564 | Health Risk | Pathogenic | Congenital myasthenic syndrome 3B, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3B |
| RS1223709952 | Health Risk | Pathogenic/Likely pathogenic | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3B, Lethal multiple pterygium syndrome |
| RS1691699883 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 3B, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3B |
| RS2106208285 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 3B, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3B |
| RS55868108 | Health Risk | Pathogenic/Likely pathogenic | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3A, Lethal multiple pterygium syndrome |
| RS762875734 | Health Risk | Pathogenic/Likely pathogenic | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3C, Lethal multiple pterygium syndrome |
| RS776218605 | Health Risk | Pathogenic/Likely pathogenic | Lethal multiple pterygium syndrome, CHRND-related disorder, Lethal multiple pterygium syndrome |