CEP295

centrosomal protein 295
OMIM: 617728, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CEP295 in Mendeliome


Version 1.1891

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 1.269

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 0.6063

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

Green CEP295 in Microcephalic Primordial Dwarfism and Slender bone dysplasias

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.29

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

Green CEP295 in Growth failure


Version 1.76

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