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  2. BRIDGE_SPEED_NEURO_20170705
  3. UNC80
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BRIDGE_SPEED_NEURO_20170705

Gene: UNC80

Green List (high evidence)
UNC80 (unc-80 homolog, NALCN channel complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000144406
EnsemblGeneIds (GRCh37): ENSG00000144406
OMIM: 612636, Gene2Phenotype
UNC80 is in 5 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_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : NA
Created: 28 Jul 2017, 10:57 a.m.

Mode of inheritance
Unknown

Publications

Created: 2 Aug 2017, 8:12 p.m.

Panel version: 0.191

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, 3:08 p.m.
Created: 31 Jul 2017, 3:08 p.m.

Panel version: 0.185

Details

Mode of Inheritance
Unknown
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
OMIM
612636
Clinvar variants
Variants in UNC80
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for UNC80 were set to

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

UNC80 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)

UNC80 was created by LouiseD