CCDC88C

coiled-coil domain containing 88C
OMIM: 611204, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CCDC88C in Hydrocephalus Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600
Red CCDC88C in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes autosomal dominant spinocerebellar ataxia
Red CCDC88C in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Phenotypes autosomal dominant spinocerebellar ataxia
Amber CCDC88C in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS South West GLH Phenotypes ?Spinocerebellar ataxia 40, OMIM:616053
Green CCDC88C in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Hydrocephalus, congenital, 1, OMIM:236600 Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360
Green CCDC88C in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600
Amber CCDC88C in Early onset or syndromic epilepsy Level 2: Neurology Version 8.123 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Literature Phenotypes ?Spinocerebellar ataxia 40 616053 AD Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR Tags watchlist
Green CCDC88C in Intellectual disability Level 2: Developmental disorders Version 9.281 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes ?Spinocerebellar ataxia 40 616053 AD Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Red CCDC88C in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 40, 616053 autosomal dominant spinocerebellar ataxia