Hydrocephalus

Gene: GPSM2

Green List (high evidence)

GPSM2 (G protein signaling modulator 2)
EnsemblGeneIds (GRCh38): ENSG00000121957
EnsemblGeneIds (GRCh37): ENSG00000121957
OMIM: 609245, Gene2Phenotype
GPSM2 is in 6 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)

4 families in PMID referenced. Hydrocephalus and macrocephaly reported but not in all. Hearing loss is consistent feature in described cases to date
Created: 9 May 2017, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chudley-McCullough syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Chudley-McCullough syndrome
OMIM
609245
Clinvar variants
Variants in GPSM2
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 GPSM2.

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

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)

GPSM2 was added to Hydrocephaluspanel. Source: Expert Review Green

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

GPSM2 was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

GPSM2 was added to Hydrocephaluspanel. Sources: Literature