Severe microcephaly

Gene: SLC9A6

Green List (high evidence)

SLC9A6 (solute carrier family 9 member A6)
EnsemblGeneIds (GRCh38): ENSG00000198689
EnsemblGeneIds (GRCh37): ENSG00000198689
OMIM: 300231, Gene2Phenotype
SLC9A6 is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62

Rebecca Foulger (Genomics England curator)

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.
Created: 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.
Created: 19 Jan 2017, 10:58 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • Other
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Angelman-like Syndrome
  • microcephaly, seizures, ataxia, and absent speech
  • Mental retardation, X-linked syndromic, Christianson type, 300243
  • Microcephaly
OMIM
300231
Clinvar variants
Variants in SLC9A6
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC9A6.

2 Mar 2017, Gel status: 4

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.

19 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

19 Jan 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

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)

19 Jan 2017, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

SLC9A6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN

19 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SLC9A6 was created by rfoulger

19 Jan 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

SLC9A6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Emory Genetics Laboratory