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  2. BRIDGE_SPEED_NEURO_20170705
  3. TBC1D24
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BRIDGE_SPEED_NEURO_20170705

Gene: TBC1D24

Green List (high evidence)
TBC1D24 (TBC1 domain family member 24)
EnsemblGeneIds (GRCh38): ENSG00000162065
EnsemblGeneIds (GRCh37): ENSG00000162065
OMIM: 613577, Gene2Phenotype
TBC1D24 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;in_gilissen_2014_known;in_omim_20150205_epilepsies . Main mutation mechanism : All missense/in frame; Loss of function
Created: 28 Jul 2017, 10:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Mode of pathogenicity

Created: 2 Aug 2017, 7:38 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 2:53 p.m.
Created: 31 Jul 2017, 2:53 p.m.

Panel version: 0.168

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Myoclonic epilepsy, infantile, familial, 605021
  • Epileptic encephalopathy, early infantile, 16, 615338
  • DOOR syndrome, 220500
  • Deafness, autosomal recessive 86, 614617
  • Deafness, autosomal dominant 65, 616044
OMIM
613577
Clinvar variants
Variants in TBC1D24
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TBC1D24 were set to Myoclonic epilepsy, infantile, familial, 605021; Epileptic encephalopathy, early infantile, 16, 615338; DOOR syndrome, 220500; Deafness, autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

TBC1D24 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)

TBC1D24 was created by LouiseD