CEP295

centrosomal protein 295
OMIM: 617728, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CEP295 in Mendeliome


Version 1.4541

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Seckel syndrome 11, OMIM # 620767

Green CEP295 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.418

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Seckel syndrome 11, OMIM # 620767

Green CEP295 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
  • Literature
Phenotypes
  • Seckel syndrome 11, OMIM # 620767

Green CEP295 in Growth failure


Version 1.99

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Seckel syndrome 11, OMIM # 620767