Genomics England

CCCTC-binding factor

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, MRD21
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes INTELLECTUAL DISABILITY
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes INTELLECTUAL DISABILITY
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes INTELLECTUAL DISABILITY
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Mental retardation, autosomal dominant 21, OMIM:615502