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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. SLC20A1
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: SLC20A1

Green List (high evidence)
SLC20A1 (solute carrier family 20 member 1)
EnsemblGeneIds (GRCh38): ENSG00000144136
EnsemblGeneIds (GRCh37): ENSG00000144136
OMIM: 137570, Gene2Phenotype
SLC20A1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three individuals and animal model supporting role of this gene in urinary tract and urorectal development.
Sources: Literature
Created: 7 Sep 2020, 8:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bladder-Exstrophy-Epispadias Complex (BEEC)

Publications

Created: 7 Sep 2020, 8:31 a.m.

Panel version: 0.73

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related
OMIM
137570
Clinvar variants
Variants in SLC20A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC20A1 were changed from Bladder-Exstrophy-Epispadias Complex (BEEC) to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related

7 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc20a1 has been classified as Green List (High Evidence).

7 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc20a1 has been classified as Green List (High Evidence).

7 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC20A1 was added gene: SLC20A1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC20A1 were set to 32850778; 27013921 Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC) Review for gene: SLC20A1 was set to GREEN