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  3. SLC9A3R1
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Calcium and Phosphate disorders

Gene: SLC9A3R1

Red List (low evidence)
SLC9A3R1 (SLC9A3 regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000109062
EnsemblGeneIds (GRCh37): ENSG00000109062
OMIM: 604990, Gene2Phenotype
SLC9A3R1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Review from GEL PanelApp team: the variants reported in the original publication (PMID: 18784102 - Karim et al 2008) are now listed in gnomAD with a combined frequency of just over 2%. Thus, the frequency of these variants in the patient cohort is essentially the same as in the general population.
Several publications subsequently report variants in this gene in cohorts with nephrolithiasis/calcinosis, but again essentially with either the same or even lower frequency as in the normal population.
Created: 30 Jan 2020, 5:22 a.m. | Last Modified: 30 Jan 2020, 5:22 a.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287

Publications

Created: 30 Jan 2020, 5:22 a.m.
Last Modified: 30 Jan 2020, 5:22 a.m.
Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
OMIM
604990
Clinvar variants
Variants in SLC9A3R1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC9A3R1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc9a3r1 has been classified as Red List (Low Evidence).

30 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC9A3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC9A3R1 were changed from Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287 to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287

30 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC9A3R1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287

30 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC9A3R1 were set to

30 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc9a3r1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC9A3R1 was added gene: SLC9A3R1 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: SLC9A3R1 was set to Unknown