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Intellectual disability syndromic and non-syndromic

Gene: FKBP4

Amber List (moderate evidence)

FKBP4 (FK506 binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000004478
EnsemblGeneIds (GRCh37): ENSG00000004478
OMIM: 600611, Gene2Phenotype
FKBP4 is in 3 panels

1 review

Mark Cleghorn (Royal Melbourne Hospital)

I don't know

Rebecca Yarwood, University of Manchester
ESHG presentation 4/6/24, unpublished

Bilalleic FKBP4 w NDD + DSD
Protein has functions in hormone receptor trafficking
FKPB4 highly expressed in stem cell and progenitor cells in gonad and neuronal degeneration

Index case
Severe GDD
abN external genitalia
CV AbN
FBBP4 p.E196*

Via GeneMatcher
7 families (12 individuals)

12/12 severe GDD/ID
9/10 microcephaly
11/12 external genital abnormalities (details not provided)

All w homozygous pLoF variants (mixture of canonical splice, frameshift, nonsense)
Sources: Other
Created: 9 Sep 2024, 6:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex neurodevelopmental disorder MONDO:0100038

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
OMIM
600611
Clinvar variants
Variants in FKBP4
Penetrance
unknown
Panels with this gene

History Filter Activity

11 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fkbp4 has been classified as Amber List (Moderate Evidence).

11 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fkbp4 has been classified as Amber List (Moderate Evidence).

9 Sep 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance

Mark Cleghorn (Royal Melbourne Hospital)

gene: FKBP4 was added gene: FKBP4 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: FKBP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP4 were set to complex neurodevelopmental disorder MONDO:0100038 Penetrance for gene: FKBP4 were set to unknown Review for gene: FKBP4 was set to AMBER