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Fetal anomalies

Gene: SLC10A7

Green List (high evidence)

SLC10A7 (solute carrier family 10 member 7)
EnsemblGeneIds (GRCh38): ENSG00000120519
EnsemblGeneIds (GRCh37): ENSG00000120519
OMIM: 611459, Gene2Phenotype
SLC10A7 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
New gene:disorder association added to DDG2P since PAGE download: Chondrodysplasia with multiple dislocations and amelogenesis imperfecta. DDG2P rating for Chondrodysplasia with multiple dislocations and amelogenesis imperfecta: confirmed. DDG2P MOI listed as: biallelic. DDG2P Mode of pathogenicity listed as loss of function.
Created: 4 Mar 2019, 2:34 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Chondrodysplasia with multiple dislocations and amelogenesis imperfecta
OMIM
611459
Clinvar variants
Variants in SLC10A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SLC10A7 was added gene: SLC10A7 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A7 were set to 30082715; 29878199 Phenotypes for gene: SLC10A7 were set to Chondrodysplasia with multiple dislocations and amelogenesis imperfecta