CCT5

chaperonin containing TCP1 subunit 5
OMIM: 610150, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red CCT5 in Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Review Literaure Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 HSAN with spastic paraplegia
Red CCT5 in Paroxysmal central nervous system disorders Version 1.10 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 HSAN with spastic paraplegia
Red CCT5 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.219	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia Sensory Neuropathy with Spastic Paraplegia
Red CCT5 in Hereditary spastic paraplegia - childhood onset Version 2.25 Signed off v.2.18 on 8 Oct 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Illumina TruGenome Clinical Sequencing Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Sensory Neuropathy with Spastic Paraplegia Neuropathy, hereditary sensory, with spastic paraplegia
Red CCT5 in Hereditary spastic paraplegia - adult onset Version 1.16 Signed off v.1.12 on 15 Oct 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH South West GLH Phenotypes Sensory Neuropathy with Spastic Paraplegia Neuropathy, hereditary sensory, with spastic paraplegia
Red CCT5 in Neurodegenerative disorders - adult onset Version 2.38 Signed off v.2.31 on 8 Oct 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia Sensory Neuropathy with Spastic Paraplegia
Red CCT5 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.383	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH NHS GMS London North GLH Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 Sensory Neuropathy with Spastic Paraplegia Sensory Neuropathy with Spastic Paraplegia Neuropathy, hereditary sensory, with spastic paraplegia, 256840
Red CCT5 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.740 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes autosomal recessive mutilating sensory neuropathy with spastic paraplegia
Red CCT5 in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Red UKGTN Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Sensory Neuropathy with Spastic Paraplegia Neuropathy, hereditary sensory, with spastic paraplegia, 256840
Green CCT5 in Severe Paediatric Disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840