Severe microcephaly

Gene: SLC25A19

Green List (high evidence)

SLC25A19 (solute carrier family 25 member 19)
EnsemblGeneIds (GRCh38): ENSG00000125454
EnsemblGeneIds (GRCh37): ENSG00000125454
OMIM: 606521, Gene2Phenotype
SLC25A19 is in 16 panels

1 review

Rebecca Foulger (Genomics England curator)

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.
Created: 3 Jan 2017, 10:20 a.m.

History Filter Activity

2 Mar 2017, Gel status: 3

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

3 Jan 2017, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

SLC25A19 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN

3 Jan 2017, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

SLC25A19 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen

3 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SLC25A19 was created by rfoulger

3 Jan 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

SLC25A19 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Illumina TruGenome Clinical Sequencing Services