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Intellectual disability

Gene: SLC9A7

No list

SLC9A7 (solute carrier family 9 member A7)
EnsemblGeneIds (GRCh38): ENSG00000065923
EnsemblGeneIds (GRCh37): ENSG00000065923
OMIM: 300368, Gene2Phenotype
SLC9A7 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect. One to watch.
Sources: Expert list
Created: 19 Feb 2020, 9:54 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked 108; OMIM #301024

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • Intellectual developmental disorder, X-linked 108
  • OMIM #301024
OMIM
300368
Clinvar variants
Variants in SLC9A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SLC9A7 was added gene: SLC9A7 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC9A7 were set to 30335141 Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108; OMIM #301024 Review for gene: SLC9A7 was set to AMBER