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Cytopenias and congenital anaemias

Gene: SLC34A1

Red List (low evidence)

SLC34A1 (solute carrier family 34 member 1)
EnsemblGeneIds (GRCh38): ENSG00000131183
EnsemblGeneIds (GRCh37): ENSG00000131183
OMIM: 182309, Gene2Phenotype
SLC34A1 is in 5 panels

1 review

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Associated disease are not associated with a clear and prominent haematological phenotype. Presentation would be expected via renal / biochemical anomalies. Not appropriate for inclusion.
Created: 9 Mar 2017, 4:32 p.m.

Phenotypes
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286; Fanconi renotubular syndrome 2, 613388

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
  • Fanconi renotubular syndrome 2, 613388
OMIM
182309
Clinvar variants
Variants in SLC34A1
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SLC34A1 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

SLC34A1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SLC34A1 was created by LouiseD