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  3. SLC20A1
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Differences of Sex Development

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Three individuals with BEEC and animal model supporting role of this gene in urinary tract and urorectal development.
Sources: Literature
Created: 25 Jul 2023, 2:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bladder-Exstrophy-Epispadias Complex (BEEC)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Jul 2023, 2:26 a.m.

Panel version: 0.277

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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

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

25 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

25 Jul 2023, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: SLC20A1 was added gene: SLC20A1 was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC20A1 were set to PMID: 32850778, 27013921 Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC) Review for gene: SLC20A1 was set to GREEN gene: SLC20A1 was marked as current diagnostic