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  3. ST3GAL3
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BRIDGE_SPEED_NEURO_20170705

Gene: ST3GAL3

Green List (high evidence)
ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000126091
EnsemblGeneIds (GRCh37): ENSG00000126091
OMIM: 606494, Gene2Phenotype
ST3GAL3 is in 8 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_2_4_2017;in_omim_20150205_epilepsies . Main mutation mechanism : All missense/in frame
Created: 28 Jul 2017, 10:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Mode of pathogenicity
Other

Created: 2 Aug 2017, 7:29 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 2:51 p.m.
Created: 31 Jul 2017, 2:51 p.m.

Panel version: 0.165

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Mental retardation, autosomal recessive 12, 611090
  • Epileptic encephalopathy, early infantile, 15, 615006
OMIM
606494
Clinvar variants
Variants in ST3GAL3
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ST3GAL3 were set to Mental retardation, autosomal recessive 12, 611090; Epileptic encephalopathy, early infantile, 15, 615006

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

ST3GAL3 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)

ST3GAL3 was created by LouiseD