Autosomal Recessive Multiple Pterygium Syndrome(Autosomal recessive multiple pterygium syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Multisystemic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | CHRNG/1146 | cholinergic receptor nicotinic gamma subunit | 2q37.1 | Chr2, NC_000002.12 (232539692..232548115) |
8424 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | CHRNA1/1134 | cholinergic receptor nicotinic alpha 1 subunit | 2q31.1 | Chr2, NC_000002.12 (174747592..174764472, complement) |
16881 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities