CNOT3

CCR4-NOT transcription complex subunit 3
OMIM: 604910, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber CNOT3 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Moyamoya disease MONDO:0016820 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864
Green CNOT3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CNOT3 syndrome Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
Green CNOT3 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CNOT3 syndrome
Green CNOT3 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes CNOT3 syndrome intellectual disability, global developmental delay Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672