Clefting
Gene: ZBTB24

ZBTB24 (zinc finger and BTB domain containing 24)
EnsemblGeneIds (GRCh38): ENSG00000112365
EnsemblGeneIds (GRCh37): ENSG00000112365
OMIM: 614064, Gene2Phenotype
ZBTB24 is in 5 panels

1 review

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

I don't know

Cleft lip has been reported in one patient out of a large cohort study comprising 44 patients with a diagnosis of ICF2 ( 23486536)
Created: 31 May 2017, 11:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

Publications

23486536

Created: 31 May 2017, 11:25 a.m.

Panel version: 0.287

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
ICF2

OMIM

614064

Clinvar variants

Variants in ZBTB24

Penetrance

Complete

Publications

23486536

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 2

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ZBTB24 was created by ellenmcdonagh