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  2. BRIDGE_SPEED_NEURO_20170705
  3. CTNNB1
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BRIDGE_SPEED_NEURO_20170705

Gene: CTNNB1

Green List (high evidence)
CTNNB1 (catenin beta 1)
EnsemblGeneIds (GRCh38): ENSG00000168036
EnsemblGeneIds (GRCh37): ENSG00000168036
OMIM: 116806, Gene2Phenotype
CTNNB1 is in 7 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 . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 8:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 2 Aug 2017, 2:19 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 10:06 a.m.
Created: 31 Jul 2017, 10:06 a.m.

Panel version: 0.47

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 19, 615075
  • Colorectal cancer, somatic, 114500
  • Pilomatricoma, somatic, 132600
  • Ovarian cancer, somatic, 167000
  • Hepatocellular carcinoma, somatic, 114550
OMIM
116806
Clinvar variants
Variants in CTNNB1
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CTNNB1 were set to Mental retardation, autosomal dominant 19, 615075; Colorectal cancer, somatic, 114500; Pilomatricoma, somatic, 132600; Ovarian cancer, somatic, 167000; Hepatocellular carcinoma, somatic, 114550

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

CTNNB1 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)

CTNNB1 was created by LouiseD