Genomics England
GMS Panels
Panels
Genes and Entities

CEP55

centrosomal protein 55
OMIM: 610000
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500, lethal CEP55-related syndromes
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
microcephaly, delayed development, and bilateral toe syndactyly
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
microcephaly, developmental delay and bilateral toe syndactyly
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
microcephaly, speech delays, and bilateral toe syndactyly