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Intellectual disability

Gene: FKBP6

Red List (low evidence)

FKBP6 (FK506 binding protein 6)
EnsemblGeneIds (GRCh38): ENSG00000077800
EnsemblGeneIds (GRCh37): ENSG00000077800
OMIM: 604839, Gene2Phenotype
FKBP6 is in 1 panel

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

PMID: 15770126 reports a father and son with Williams_Beuren syndrome with a microdeletion containing this gene. However, a girl with a microdeletion that included FKBP6 had high cognitive function PMID: 19205026.
Created: 13 Dec 2017, 9:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Williams-Beuren syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Williams-Beuren syndrome
Tags
microdeletion
OMIM
604839
Clinvar variants
Variants in FKBP6
Penetrance
None
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

Added New Source

Ellen McDonagh (Genomics England Curator)

FKBP6 was added to Intellectual disability panel. Sources: Expert Review Red

5 Jan 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FKBP6 was created by Ellen McDonagh