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BRIDGE_SPEED_NEURO_20170705

Gene: CCDC115

Green List (high evidence)

CCDC115 (coiled-coil domain containing 115)
EnsemblGeneIds (GRCh38): ENSG00000136710
EnsemblGeneIds (GRCh37): ENSG00000136710
OMIM: 613734, Gene2Phenotype
CCDC115 is in 7 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for CCDC115 is VMA22.
Created: 12 Mar 2025, 2:34 p.m. | Last Modified: 12 Mar 2025, 2:34 p.m.
Panel Version: 0.202

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : loss of function
Created: 28 Jul 2017, 8:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Disorder of Golgi homeostasis
Tags
new-gene-name
OMIM
613734
Clinvar variants
Variants in CCDC115
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag new-gene-name tag was added to gene: CCDC115.

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

CCDC115 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CCDC115 was created by LouiseD