Multiple Acyl-CoA Dehydrogenase Deficiency(Glutaric acidemia type 2)
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 | ETFDH/2110 | electron transfer flavoprotein dehydrogenase | 4q32.1 | Chr4, NC_000004.12 (158672296..158709623) |
37328 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ETFA/2108 | electron transfer flavoprotein subunit alpha | 15q24.2 | Chr15, NC_000015.10 (76215353..76311469, complement) |
96117 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | FLAD1/80308 | flavin adenine dinucleotide synthetase 1 | 1q21.3 | Chr1, NC_000001.11 (154983344..154993111) |
9768 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | ETFB/2109 | electron transfer flavoprotein subunit beta | 19q13.41 | Chr19, NC_000019.10 (51345155..51366388, complement) |
21234 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | MADD/8567 | MAP kinase activating death domain | 11p11.2 | Chr11, NC_000011.10 (47269188..47330031) |
60844 nt | 42 | 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 | ||||||||
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