CEP19

centrosomal protein 19
OMIM: 615586, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green CEP19 in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Morbid obesity and spermatogenic failure, OMIM:615703
Amber CEP19 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • NHS GMS
  • RetNet
  • Expert Review Amber