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Intellectual disability syndromic and non-syndromic

Gene: SLC9A7

Amber List (moderate evidence)

SLC9A7 (solute carrier family 9 member A7)
EnsemblGeneIds (GRCh38): ENSG00000065923
EnsemblGeneIds (GRCh37): ENSG00000065923
OMIM: 300368, Gene2Phenotype
SLC9A7 is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

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.
Created: 10 Dec 2019, 10:44 p.m. | Last Modified: 10 Dec 2019, 10:44 p.m.
Panel Version: 0.1234

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
  • Expert Review Amber
  • Expert list
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

14 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc9a7 has been classified as Amber List (Moderate Evidence).

10 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: slc9a7 has been classified as Amber List (Moderate Evidence).

10 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from SLC9A7. Source Expert list was added to SLC9A7. Mode of inheritance for gene SLC9A7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC9A7 were changed from to Intellectual developmental disorder, X-linked 108; OMIM #301024 Publications for gene SLC9A7 were changed from PubMed: 30335141 to PubMed: 30335141

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC9A7 was added gene: SLC9A7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC9A7 was set to Unknown