Microcephaly
Gene: CTCF

CTCF (CCCTC-binding factor)
EnsemblGeneIds (GRCh38): ENSG00000102974
EnsemblGeneIds (GRCh37): ENSG00000102974
OMIM: 604167, Gene2Phenotype
CTCF is in 7 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 23746550
- 4 probands, 2x PTV, 1x missense, 1x 280kb deletion (all de novo)
- OFCs ranges from -0.8 SD (the proband with the deletion) to -3.51 SD

PMID: 30893510
- 3 probands, de novo 2x PTV and 1x missense
- OFCs ranges from < -2 to < -3 SD

PMID: 28619046
- 1x proband with de novo fs
- head circumference was under 10th centle
Created: 2 Sep 2020, 8:36 a.m. | Last Modified: 2 Sep 2020, 8:36 a.m.

Panel Version: 0.328

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

Phenotypes
Mental retardation, autosomal dominant 21 (MIM#615502)

Publications

Created: 2 Sep 2020, 8:36 a.m.
Last Modified: 2 Sep 2020, 8:36 a.m.
Panel version: 0.328

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mental retardation, autosomal dominant 21 (MIM#615502)

OMIM

604167

Clinvar variants

Variants in CTCF

Penetrance

None

Publications

Panels with this gene