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Clefting disorders
Gene: CTCF

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated individuals reported with a neurodevelopmental disorder comprising ID, microcephaly and multiple congenital anomalies, including cleft palate and congenital heart disease.
Created: 25 Nov 2021, 9:54 p.m. | Last Modified: 25 Nov 2021, 9:54 p.m.

Panel Version: 0.148

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 25 Nov 2021, 9:54 p.m.
Last Modified: 25 Nov 2021, 9:54 p.m.
Panel version: 0.148

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Mental retardation, autosomal dominant 21 (MIM#615502)

OMIM

Clinvar variants

Variants in CTCF

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctcf has been classified as Green List (High Evidence).

25 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTCF were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 to Mental retardation, autosomal dominant 21 (MIM#615502)

25 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTCF were set to

25 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CTCF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTCF was added gene: CTCF was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CTCF were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21