CCT3

chaperonin containing TCP1 subunit 3
OMIM: 600114, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber CCT3 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 Tags Q1_26_promote_green
Amber CCT3 in Malformations of cortical development Level 2: Neurology Version 7.30 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 Tags Q1_26_promote_green
Amber CCT3 in Optic neuropathy Level 2: Ophthalmology Version 5.48 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 Tags Q1_26_promote_green
Amber CCT3 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, NOT imprinted	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination
Green CCT3 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 CCT3-related neurodevelopmental disorder with hypomyelination of white matter, OMIM:621034
Amber CCT3 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, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 Tags Q1_26_promote_green