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Clefting disorders
Gene: ZBTB24

ZBTB24 (zinc finger and BTB domain containing 24)
EnsemblGeneIds (GRCh38): ENSG00000112365
EnsemblGeneIds (GRCh37): ENSG00000112365
OMIM: 614064, Gene2Phenotype
ZBTB24 is in 11 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

Micrognathia, retrognathia, high-arched palate reported with this condition but no published association with clefting.
Created: 10 Feb 2022, 10:19 a.m. | Last Modified: 10 Feb 2022, 10:19 a.m.

Panel Version: 0.172

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069

Publications

Created: 10 Feb 2022, 10:19 a.m.
Last Modified: 10 Feb 2022, 10:19 a.m.
Panel version: 0.172

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069

OMIM

Clinvar variants

Variants in ZBTB24

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zbtb24 has been classified as Red List (Low Evidence).

11 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZBTB24 were changed from IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2 to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069

11 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZBTB24 were set to 23486536

11 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zbtb24 has been classified as Red List (Low Evidence).

16 Sep 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZBTB24 was added gene: ZBTB24 was added to Clefting_GEL. Sources: Expert Review Amber Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB24 were set to 23486536 Phenotypes for gene: ZBTB24 were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2