Hydrocephalus

Gene: RPS6KA3

Green List (high evidence)

RPS6KA3 (ribosomal protein S6 kinase A3)
EnsemblGeneIds (GRCh38): ENSG00000177189
EnsemblGeneIds (GRCh37): ENSG00000177189
OMIM: 300075, Gene2Phenotype
RPS6KA3 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Clear causation. Macrocephaly and hydrocephalus are reported features, although not common but on balance considered appropriate for inclusion
Created: 9 May 2017, 1:23 p.m.

Phenotypes
Coffin-Lowry syndrome

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Coffin-Lowry syndrome
OMIM
300075
Clinvar variants
Variants in RPS6KA3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RPS6KA3.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

30 May 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for RPS6KA3 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS6KA3 was added to Hydrocephaluspanel. Source: Expert Review Green

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

RPS6KA3 was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

RPS6KA3 was added to Hydrocephaluspanel. Sources: Literature