1. Panels
  2. Monogenic short stature
  3. CCDC186
STRs in panel
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Monogenic short stature

Gene: CCDC186

Amber List (moderate evidence)
CCDC186 (coiled-coil domain containing 186)
EnsemblGeneIds (GRCh38): ENSG00000165813
EnsemblGeneIds (GRCh37): ENSG00000165813
CCDC186 is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Not associated with a relevant phenotype in OMIM or Gen2Phen. At least 2 terminating variants reported in cases with failure to thrive and developmental delay.
Sources: Literature
Created: 11 Feb 2021, 11:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
failure to thrive and developmental delay

Publications

Created: 11 Feb 2021, 11:46 a.m.

Copied from panel: Growth failure in early childhood v3.78

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • failure to thrive and developmental delay
Tags
watchlist
Clinvar variants
Variants in CCDC186
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: CCDC186 was added gene: CCDC186 was added to Monogenic short stature. Sources: Expert Review Amber,Literature watchlist tags were added to gene: CCDC186. Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC186 were set to 33259146; 28600779 Phenotypes for gene: CCDC186 were set to failure to thrive and developmental delay