Clefting disorders
Gene: CTCF
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
Gene: ctcf has been classified as Green List (High Evidence).
Phenotypes for gene: CTCF were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 to Mental retardation, autosomal dominant 21 (MIM#615502)
Publications for gene: CTCF were set to
Mode of inheritance for gene: CTCF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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