CEP135

centrosomal protein 135
OMIM: 611423, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CEP135 in Mendeliome


Version 1.4541

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephalic primordial dwarfism
  • Microcephaly 8, primary, autosomal recessive, 614673

Green CEP135 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.418

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephalic primordial dwarfism
  • Microcephaly 8, primary, autosomal recessive, 614673

Red CEP135 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.592

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephalic primordial dwarfism
  • Microcephaly 8, primary, autosomal recessive, 614673

Green CEP135 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.699

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microcephalic primordial dwarfism
  • Microcephaly 8, primary, autosomal recessive, 614673

Green CEP135 in Fetal anomalies


Version 1.542

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Microcephaly 8, primary, autosomal recessive, OMIM:614673
  • Microcephaly 8, primary, autosomal recessive, MONDO:0013849
  • Microcephalic primordial dwarfism