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Severe microcephaly

Gene: CTCF

Amber List (moderate evidence)

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

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. New gene added by Zornitza Stark (however, it was added under the gene symbol CTSF but should be CTCF) with the following review:

"Recommended gene rating: Green
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
Sources: Expert list
Created: 4 Sep 2020, 10:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

23746550
30893510
28619046

Variants in this GENE are reported as part of current diagnostic practice
Created: 4 Sep 2020, 10:18 a.m."

There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Sources: Expert list
Created: 6 May 2021, 9:07 a.m.

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

Phenotypes
Mental retardation, autosomal dominant 21, OMIM:615502

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mental retardation, autosomal dominant 21, OMIM:615502
Tags
Q2_21_rating
OMIM
604167
Clinvar variants
Variants in CTCF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ctcf has been classified as Amber List (Moderate Evidence).

6 May 2021, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: CTCF was added gene: CTCF was added to Severe microcephaly. Sources: Expert list Q2_21_rating tags were added to gene: CTCF. Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTCF were set to 23746550; 30893510; 28619046 Phenotypes for gene: CTCF were set to Mental retardation, autosomal dominant 21, OMIM:615502 Review for gene: CTCF was set to GREEN