Severe microcephalyGene: SLC9A6
Comment on list classification: Updated rating from Amber to Green after clinical discussion. >3 cases of SLC9A6 mutations causing OMIM:300243, which presents with microcephaly. SLC9A6 is a confirmed DDG2P gene for OMIM:300243.
19 Jan 2017, 11 a.m.
Microcephaly is one of the phenotypes of Mental retardation, X-linked syndromic, Christianson type (OMIM:300243, Angelman-like syndrome). >3 cases linking SLC9A6 mutations to OMIM:300243 from a wide range of populations.
19 Jan 2017, 10:58 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.
This gene has been classified as Green List (High Evidence).
SLC9A6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
SLC9A6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
SLC9A6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Emory Genetics Laboratory
SLC9A6 was created by rfoulger