Severe microcephaly
Gene: CTCFThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
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 listCreated: 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
Tag Q2_21_rating was removed from gene: CTCF.
Source Expert Review Green was added to CTCF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ctcf has been classified as Amber List (Moderate Evidence).
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