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  2. BRIDGE_SPEED_NEURO_20170705
  3. CDH23
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BRIDGE_SPEED_NEURO_20170705

Gene: CDH23

Green List (high evidence)
CDH23 (cadherin related 23)
EnsemblGeneIds (GRCh38): ENSG00000107736
EnsemblGeneIds (GRCh37): ENSG00000107736
OMIM: 605516, Gene2Phenotype
CDH23 is in 11 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; All missense/in frame
Created: 28 Jul 2017, 8:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 1:44 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 9:36 a.m.
Created: 31 Jul 2017, 9:36 a.m.

Panel version: 0.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Usher syndrome, type 1D, 601067
  • Deafness, autosomal recessive 12, 601386
  • Usher syndrome, type 1D/F digenic, 601067
OMIM
605516
Clinvar variants
Variants in CDH23
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CDH23 were set to Usher syndrome, type 1D, 601067; Deafness, autosomal recessive 12, 601386; Usher syndrome, type 1D/F digenic, 601067

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

CDH23 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)

CDH23 was created by LouiseD