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DDG2P

Gene: SLC26A2

Green List (high evidence)

SLC26A2 (solute carrier family 26 member 2)
EnsemblGeneIds (GRCh38): ENSG00000155850
EnsemblGeneIds (GRCh37): ENSG00000155850
OMIM: 606718, Gene2Phenotype
SLC26A2 is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: all missense/in frame, loss of function.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACHONDROGENESIS TYPE 1B 600972
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900
  • ATELOSTEOGENESIS TYPE 2 256050
  • DIASTROPHIC DYSPLASIA 222600
OMIM
606718
Clinvar variants
Variants in SLC26A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes DIASTROPHIC DYSPLASIA 222600 for gene: SLC26A2 Publications for gene SLC26A2 were changed from 12966518 to 7923357; 10482955; 10466420; 8571951; 18925670

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900 for gene: SLC26A2 Publications for gene SLC26A2 were changed from 4644462; 8571951 to 12966518

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes ATELOSTEOGENESIS TYPE 2 256050 for gene: SLC26A2 Publications for gene SLC26A2 were changed from 8528239 to 4644462; 8571951

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SLC26A2 was added gene: SLC26A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A2 were set to 8528239 Phenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B 600972