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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

3 reviews

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Not associated with a disease in OMIM or Gene2Phenotype. Candidate gene for ID in PMID 26350204 (Grozeva et al, 2015). Literature search did not obtain any results.
Created: 13 Dec 2017, 9:46 p.m.

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Sources
  • Expert Review Red
OMIM
617076
Clinvar variants
Variants in FKBPL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene FKBPL was set to ['26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FKBPL was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FKBPL was created by ellenmcdonagh