Fetal Akinesia Deformation Sequence 1(Lethal Pena-Shokeir 1 syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Respiratory disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Respiratory 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 | MUSK/4593 | muscle associated receptor tyrosine kinase | 9q31.3 | Chr9, NC_000009.12 (110668791..110806558) |
137768 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | DOK7/285489 | docking protein 7 | 4p16.3 | Chr4, NC_000004.12 (3463306..3501482) |
38177 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | RAPSN/5913 | receptor associated protein of the synapse | 11p11.2 | Chr11, NC_000011.10 (47437764..47449136, complement) |
11373 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | ASCC1/51008 | activating signal cointegrator 1 complex subunit 1 | 10q22.1 | Chr10, NC_000010.11 (72096032..72217134, complement) |
121103 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | VPS13D/55187 | vacuolar protein sorting 13 homolog D | 1p36.22 | Chr1, NC_000001.11 (12230030..12512047) |
282018 nt | 70 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | ASPM/259266 | assembly factor for spindle microtubules | 1q31.3 | Chr1, NC_000001.11 (197084127..197146669, complement) |
62543 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | 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 |
| 8 | ASAH1/427 | N-acylsphingosine amidohydrolase 1 | 8p22 | Chr8, NC_000008.11 (18055992..18084961, complement) |
28970 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | ADSS1/122622 | adenylosuccinate synthase 1 | 14q32.33 | Chr14, NC_000014.9 (104724229..104747325) |
23097 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | EARS2/124454 | glutamyl-tRNA synthetase 2, mitochondrial | 16p12.2 | Chr16, NC_000016.10 (23520754..23557375, complement) |
36622 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | LGI4/163175 | leucine rich repeat LGI family member 4 | 19q13.12 | Chr19, NC_000019.10 (35124513..35135059, complement) |
10547 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | RYR1/6261 | ryanodine receptor 1 | 19q13.2 | Chr19, NC_000019.10 (38433691..38587564) |
153874 nt | 106 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | GLDN/342035 | gliomedin | 15q21.2 | Chr15, NC_000015.10 (51341655..51413365) |
71711 nt | 15 | 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 Human Phenotype Ontology NORD | ||||||||