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Intellectual disability

Gene: SLC9A9

Red List (low evidence)

SLC9A9 (solute carrier family 9 member A9)
EnsemblGeneIds (GRCh38): ENSG00000181804
EnsemblGeneIds (GRCh37): ENSG00000181804
OMIM: 608396, Gene2Phenotype
SLC9A9 is in 3 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
SUSCEPTIBILITY TO AUTISM TYPE 16 (AUTS16)

Publications

  • 0

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

SLC9A9 has links to autism susceptibility which is agreed out of scope for ID panel. PMID:14569117 (2003) report a pericentric inversion of chromosome 3 in a patient with with features of ADHD and intellectual disability: one breakpoint lies within SLC9A9. Currently insufficient evidence for inclusion on diagnostic-grade ID panel.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
{?Autism susceptibility 16}, 613410

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • {?Autism susceptibility 16}, 613410
OMIM
608396
Clinvar variants
Variants in SLC9A9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SLC9A9.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene SLC9A9 was set to ['20032819', ' 14569117']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC9A9 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC9A9 was created by ellenmcdonagh