Genomics England
GMS Panels
Panels
Genes and Entities

CEP135

centrosomal protein 135
OMIM: 611423
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
PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 8, primary, autosomal recessive, OMIM:614673, Microcephaly 8, primary, autosomal recessive, MONDO:0013849
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
Microcephaly 8, primary, autosomal recessive, 614673, PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.41
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Autosomal recessive primary microcephaly (MCPH), ?Microcephaly 8, primary, autosomal recessive, 614673, Primary Microcephaly and Disturbed Centrosomal Function, 614673