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  2. BRIDGE_SPEED_NEURO_20170705
  3. CNTNAP2
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BRIDGE_SPEED_NEURO_20170705

Gene: CNTNAP2

Green List (high evidence)
CNTNAP2 (contactin associated protein like 2)
EnsemblGeneIds (GRCh38): ENSG00000174469
EnsemblGeneIds (GRCh37): ENSG00000174469
OMIM: 604569, Gene2Phenotype
CNTNAP2 is in 4 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;in_gilissen_2014_known;in_omim_20150205_epilepsies . Main mutation mechanism : Loss of function; Uncertain
Created: 28 Jul 2017, 8:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 2:01 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 9:41 a.m.
Created: 31 Jul 2017, 9:41 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome, 610042
  • {Autism susceptibility 15}, 612100
  • Pitt-Hopkins like syndrome 1, 610042
OMIM
604569
Clinvar variants
Variants in CNTNAP2
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome, 610042; {Autism susceptibility 15}, 612100; Pitt-Hopkins like syndrome 1, 610042

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CNTNAP2 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

CNTNAP2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green