CEP19

centrosomal protein 19
OMIM: 615586, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red CEP19 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bardet Biedl syndrome

Red CEP19 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Expert list
Phenotypes
  • Bardet-Biedl syndorme

Amber CEP19 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Morbid obesity and spermatogenic failure MIM#615703
  • Bardet-Biedl syndorme

Amber CEP19 in Severe early-onset obesity


Level 2: Endocrine disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Morbid obesity and spermatogenic failure, OMIM:615703
  • Bardet Biedl syndrome