C19ORF12 Chromosome 19
Chromosome 19 open reading frame 12
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What This Gene Does
This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Associated Conditions (21)
Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Dystonic disorder
Mental deterioration
Adult-onset night blindness
Peripheral visual field loss
Tremor
Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia
Inborn genetic diseases
Iron accumulation in brain
Neurodegeneration
Neurodegeneration with brain iron accumulation
Neurofibromatosis
type 1
Spastic ataxia
C19orf12-related disorder
Abnormal central motor function
Abnormality of iron homeostasis
Global developmental delay
+1 more conditions
Key Variants
RS1352744778
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4
Health Risk
RS146170087
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 4, Dystonic disorder, Mental deterioration
Health Risk
RS146492790
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia
Health Risk
RS1555714808
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 4, Inborn genetic diseases, Neurodegeneration with brain iron accumulation 4
Health Risk
RS1795596096
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4
Health Risk
RS200133991
Conflicting classifications of pathogenicity
Iron accumulation in brain, Neurodegeneration, Hereditary spastic paraplegia
Health Risk
RS2513299932
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4
Health Risk
RS376103979
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4, Inborn genetic diseases
Health Risk
RS398122409
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation, Neurofibromatosis
Health Risk
RS544395324
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4
Health Risk
RS762116472
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 43, Hereditary spastic paraplegia
Health Risk
RS768063881
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1352744778 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4 |
| RS146170087 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration with brain iron accumulation 4, Dystonic disorder, Mental deterioration |
| RS146492790 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia |
| RS1555714808 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration with brain iron accumulation 4, Inborn genetic diseases, Neurodegeneration with brain iron accumulation 4 |
| RS1795596096 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4 |
| RS200133991 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Neurodegeneration, Hereditary spastic paraplegia |
| RS2513299932 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4 |
| RS376103979 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4, Inborn genetic diseases |
| RS398122409 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation, Neurofibromatosis |
| RS544395324 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4 |
| RS762116472 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 43, Hereditary spastic paraplegia |
| RS768063881 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4 |
| RS948285503 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4 |
| RS1242938563 | Health Risk | Likely pathogenic | — |
| RS1972184295 | Health Risk | Likely pathogenic | Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4 |
| RS2145639419 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 43, Hereditary spastic paraplegia 43 |
| RS2513281713 | Health Risk | Likely pathogenic | — |
| RS2513300586 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 43, Hereditary spastic paraplegia 43 |
| RS1424291552 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4 |
| RS1599534276 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4 |
| RS1599534394 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4 |
| RS2145621443 | Health Risk | Pathogenic | Spastic ataxia, Spastic ataxia |
| RS2145623001 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4 |
| RS2513280986 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation, C19orf12-related disorder, Neurodegeneration with brain iron accumulation |
| RS387907173 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4 |
| RS797045423 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4 |
| RS1064797235 | Health Risk | Pathogenic/Likely pathogenic | Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4 |
| RS1568326754 | Health Risk | Pathogenic/Likely pathogenic | Neurodegeneration with brain iron accumulation 4, Abnormal central motor function, Hereditary spastic paraplegia 43 |
| RS201987973 | Health Risk | Pathogenic/Likely pathogenic | Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4 |
| RS397514477 | Health Risk | Pathogenic/Likely pathogenic | Neurodegeneration with brain iron accumulation 4, Abnormality of iron homeostasis, Hereditary spastic paraplegia 43 |
| RS515726204 | Health Risk | Pathogenic/Likely pathogenic | Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation |
| RS515726205 | Health Risk | Pathogenic/Likely pathogenic | Neurodegeneration with brain iron accumulation 4, Dystonic disorder, Mental deterioration |
| RS752450983 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Intellectual disability, Neurodegeneration with brain iron accumulation 4 |