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Intellectual_disability

Gene: FKBPL

Red List (low evidence)

FKBPL (FK506 binding protein like)
EnsemblGeneIds (GRCh38): ENSG00000204315
EnsemblGeneIds (GRCh37): ENSG00000204315
OMIM: 617076, Gene2Phenotype
FKBPL is in 1 panel

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Details

Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
OMIM
617076
Clinvar variants
Variants in FKBPL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FKBPL was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)