Severe microcephalyGene: SLC25A19
SLC25A19 mutations as a cause of microcephaly may be confined to the Amish populations, though Andrew Jackson notes that it is well documented in terms of functional studies. Rosenberg et al. (PMID:12185364, 2002) demonstrated that Amish lethal microcephaly (OMIM:607196) is caused by homozygosity for a 530G-C transversion in the SLC25A19 gene, predicted to produce a gly177-to-ala (G177A) substitution in the first residue of the fourth transmembrane domain. This is currently the only recorded variant in OMIM for this disorder.
3 Jan 2017, 10:20 a.m.
2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
SLC25A19 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
SLC25A19 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
SLC25A19 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Illumina TruGenome Clinical Sequencing Services
SLC25A19 was created by rfoulger