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DDG2P

Gene: SLC12A9

Green List (high evidence)
SLC12A9 (solute carrier family 12 member 9)
EnsemblGeneIds (GRCh38): ENSG00000146828
EnsemblGeneIds (GRCh37): ENSG00000146828
OMIM: 616861, Gene2Phenotype
SLC12A9 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects are moderate, biallelic_autosomal and loss of function (PMID:38334070). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03558.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 38334070).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects; MONDO:0100038

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects
Tags
gene-checked
OMIM
616861
Clinvar variants
Variants in SLC12A9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SLC12A9 was changed from Other to None

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: SLC12A9.

21 Feb 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SLC12A9 was added gene: SLC12A9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC12A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A9 were set to 38334070 Phenotypes for gene: SLC12A9 were set to SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects Mode of pathogenicity for gene: SLC12A9 was set to Other