Severe microcephaly
Gene: SLC9A6EnsemblGeneIds (GRCh38): ENSG00000198689
EnsemblGeneIds (GRCh37): ENSG00000198689
OMIM: 300231, Gene2Phenotype
SLC9A6 is in 10 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 GreenCreated: 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
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Hereditary ataxia
- Fetal anomalies
- Severe microcephaly
- Adult onset neurodegenerative disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC9A6.
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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
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)
Added New Source
Rebecca Foulger (Genomics England curator)SLC9A6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
Added New Source
Rebecca Foulger (Genomics England curator)SLC9A6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Emory Genetics Laboratory
Created
Rebecca Foulger (Genomics England curator)SLC9A6 was created by rfoulger