Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1(Combined oxidative phosphorylation deficiency 1)
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic 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 | GFM1/85476 | G elongation factor mitochondrial 1 | 3q25.32 | Chr3, NC_000003.12 (158644527..158695581) |
51055 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | NARS2/79731 | asparaginyl-tRNA synthetase 2, mitochondrial | 11q14.1 | Chr11, NC_000011.10 (78435968..78574864, complement) |
138897 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | MRPL44/65080 | mitochondrial ribosomal protein L44 | 2q36.1 | Chr2, NC_000002.12 (223950854..223967714) |
16861 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |