Genomics England
GMS Panels
Panels
Genes and Entities

CCDC88C

coiled-coil domain containing 88C
OMIM: 611204
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrocephalus, congenital, 1, OMIM:236600, Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Spinocerebellar ataxia 40 616053 AD, Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR