Leukodystrophies with intracranial calcifications panel [24 genes]
With the recent advances in MRI technology and the development of susceptibility-weighted imaging, it is now possible to identify intracranial calcifications that are characteristic of some leukodystrophies and other inherited leukoencephalopathies. This type of lesions can also be identified by computerized tomography (CT) scan. Among the diseases included in this group are Aicardi-Goutières syndrome, Cockayne syndrome, Krabbe disease, Nasu-Hakola disease, cystic leukoencephalopathy without megalencephaly, cerebrotendinous xanthomatosis, and cerebroretinal microangiopathy with calcifications and cysts, among others.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
- ABCD1: Adrenoleukodystrophy
- GJA1: Adrenoleukodystrophy
- GFAP: Alexander disease
- GLA: Fabry disease
- PSAP, GALC: Krabbe disease
- TREM2, TYROBP: Nasu-Hakola disease
- COL4A1: Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL).
- COL4A1:COL4A1-related familial vascular leukoencephalopathy
- COL4A1:Cerebral small vessel disease
- PAH: Phenylketonuria
- CSF1R: Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia (HDLS)
- RNASET2: Cystic leukoencephalopathy without megalencephaly
- CTC1:Cerebroretinal microangiopathy with calcifications and cysts (Coats plus syndrome)
- COL4A2: Porencephaly
- ADAR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, IFIH1, TREX1: Aicardi-Goutières syndrome
- ERCC6, ERCC8: Cockayne syndrome
- CYP27A1: Cerebrotendinous xanthomatosis