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Mendeliome

Gene: CTCF

Green List (high evidence)

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, 9:52 p.m. | Last Modified: 25 Nov 2021, 9:52 p.m.
Panel Version: 0.9883

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

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

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 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 Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTCF was added gene: CTCF was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTCF was set to Unknown