CCDC88C

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

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CCDC88C in Hydrocephalus


Version 2.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hydrocephalus, nonsyndromic, autosomal recessive 236600

Red CCDC88C in Ataxia and cerebellar anomalies - narrow panel


Version 1.7

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 1.202

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • autosomal dominant spinocerebellar ataxia

Red CCDC88C in Autism


Version 0.15

review Not set
Sources
  • Expert Review Red
  • SFARI

Amber CCDC88C in Neurodegenerative disorders - adult onset


Version 1.117

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • autosomal dominant spinocerebellar ataxia

Amber CCDC88C in Fetal anomalies


Version 0.371

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE

Amber CCDC88C in DDG2P


Version 1.176

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600

Amber CCDC88C in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.497

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 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1135

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 - adult onset


Version 2.0

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