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Fetal anomalies

Gene: CTCF

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Microcephaly and multiple congenital anomalies reported, including cleft palate and congenital heart disease.
Created: 25 Nov 2021, 9:51 p.m. | Last Modified: 25 Nov 2021, 9:51 p.m.
Panel Version: 0.723

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 25 Nov 2021, 9:51 p.m.
Last Modified: 25 Nov 2021, 9:51 p.m.
Panel version: 0.723

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: Imported from Microcephaly panel version 0.328

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>10 variants previously reported in individuals with ID and variable neurodevelopmental disorder, mostly de novo.
Created: 20 Apr 2020, 4:06 a.m. | Last Modified: 20 Apr 2020, 4:06 a.m.
Panel Version: 0.2532

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

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

Publications

Created: 20 Apr 2020, 4:06 a.m.
Last Modified: 20 Apr 2020, 4:06 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2532

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Mental retardation, autosomal dominant 21 (MIM#615502)
OMIM
604167
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 INTELLECTUAL DISABILITY 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

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CTCF were set to INTELLECTUAL DISABILITY