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  2. BRIDGE_SPEED_NEURO_20170705
  3. SLC6A1
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BRIDGE_SPEED_NEURO_20170705

Gene: SLC6A1

Green List (high evidence)
SLC6A1 (solute carrier family 6 member 1)
EnsemblGeneIds (GRCh38): ENSG00000157103
EnsemblGeneIds (GRCh37): ENSG00000157103
OMIM: 137165, Gene2Phenotype
SLC6A1 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_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_movement_disorder_list . Main mutation mechanism : NA
Created: 28 Jul 2017, 10:46 a.m.

Mode of inheritance
Unknown

Publications

  • 25529582
  • Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 7:13 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, 2:47 p.m.
Created: 31 Jul 2017, 2:47 p.m.

Panel version: 0.159

Details

Mode of Inheritance
Unknown
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
OMIM
137165
Clinvar variants
Variants in SLC6A1
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC6A1 were set to

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SLC6A1 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)

SLC6A1 was created by LouiseD