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BRIDGE_SPEED_NEURO_20170705

Gene: TRAPPC2

Green List (high evidence)

TRAPPC2 (trafficking protein particle complex 2)
EnsemblGeneIds (GRCh38): ENSG00000196459
EnsemblGeneIds (GRCh37): ENSG00000196459
OMIM: 300202, Gene2Phenotype
TRAPPC2 is in 6 panels

2 reviews

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_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 10:54 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: removed NA phenotype, to be reviewed if gene to be green on a panel that will be used in pipeline
Created: 31 Jul 2017, 2:58 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
OMIM
300202
Clinvar variants
Variants in TRAPPC2
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TRAPPC2 were set to

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

TRAPPC2 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)

TRAPPC2 was created by LouiseD