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Research panel - Severe Paediatric Disorders

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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SLC26A2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Achondrogenesis Ib, 600972 (3) | Atelosteogenesis, type II, 256050 (3) | De la Chapelle dysplasia, 256050 (3) | Diastrophic dysplasia, 222600 (3) | Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3) | Epiphyseal dysplasia, multiple, 4, 226900 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Diastrophic dysplasia, 222600
  • Epiphyseal dysplasia, multiple, 4, 226900
  • Achondrogenesis Ib, 600972
  • De la Chapelle dysplasia, 256050
  • Diastrophic dysplasia, broad bone-platyspondylic variant, 222600
  • Atelosteogenesis, type II, 256050
OMIM
606718
Clinvar variants
Variants in SLC26A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SLC26A2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Achondrogenesis Ib, 600972; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Diastrophic dysplasia, 222600; Atelosteogenesis, type II, 256050; Epiphyseal dysplasia, multiple, 4, 226900; De la Chapelle dysplasia, 256050 for gene: SLC26A2

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC26A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC26A2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC26A2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SLC26A2 was added gene: SLC26A2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC26A2 was set to