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  2. BRIDGE_SPEED_NEURO_20170705
  3. RPS6KA3
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BRIDGE_SPEED_NEURO_20170705

Gene: RPS6KA3

Green List (high evidence)
RPS6KA3 (ribosomal protein S6 kinase A3)
EnsemblGeneIds (GRCh38): ENSG00000177189
EnsemblGeneIds (GRCh37): ENSG00000177189
OMIM: 300075, Gene2Phenotype
RPS6KA3 is in 9 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_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 10:41 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Created: 2 Aug 2017, 6:44 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 2:13 p.m.
Created: 31 Jul 2017, 2:13 p.m.

Panel version: 0.144

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Coffin-Lowry syndrome, 303600
  • Mental retardation, X-linked19, 300844
OMIM
300075
Clinvar variants
Variants in RPS6KA3
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RPS6KA3 were set to Coffin-Lowry syndrome, 303600; Mental retardation, X-linked19, 300844

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

RPS6KA3 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

RPS6KA3 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green