CCDC8

coiled-coil domain containing 8
OMIM: 614145, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CCDC8 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-M syndrome 3, 614205

Green CCDC8 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.254

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 3-M syndrome 3, 614205

Amber CCDC8 in Fetal anomalies


Version 0.371

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • THREE M SYNDROME 3

Amber CCDC8 in DDG2P


Version 1.179

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • THREE M SYNDROME 3 614205

Green CCDC8 in Growth failure in early childhood


Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 3-M syndrome 3, 614205
  • 3M

Red CCDC8 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • 3-M syndrome, 614205
  • 3M syndrome
  • Three M syndrome 3