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Severe Paediatric Disorders

Gene: SLC4A11

Green List (high evidence)

SLC4A11 (solute carrier family 4 member 11)
EnsemblGeneIds (GRCh38): ENSG00000088836
EnsemblGeneIds (GRCh37): ENSG00000088836
OMIM: 610206, Gene2Phenotype
SLC4A11 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: SLC4A11; Recommended initial gene rating: Green List (high evidence); Phenotypes: Corneal dystrophy, Fuchs endothelial, 4, 613268 (3) | Corneal endothelial dystrophy and perceptive deafness, 217400 (3) | Corneal endothelial dystrophy, autosomal recessive, 217700 (3); Mode of inheritance: ND | 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 4, 613268
  • Corneal endothelial dystrophy, autosomal recessive, 217700
  • Corneal endothelial dystrophy and perceptive deafness, 217400
OMIM
610206
Clinvar variants
Variants in SLC4A11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (