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Intellectual disability

Gene: SLC12A5

Green List (high evidence)

SLC12A5 (solute carrier family 12 member 5)
EnsemblGeneIds (GRCh38): ENSG00000124140
EnsemblGeneIds (GRCh37): ENSG00000124140
OMIM: 606726, Gene2Phenotype
SLC12A5 is in 5 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
FEBRILE SEIZURES

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Richard Scott (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Biallelic mutations are causative of an epileptic encephalopathy phenotype
Created: 8 Feb 2016, 12:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • FEBRILE SEIZURES
OMIM
606726
Clinvar variants
Variants in SLC12A5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 3

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.

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

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)

SLC12A5 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC12A5 was created by ellenmcdonagh