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  2. Polymicrogyria and Schizencephaly
  3. GPSM2
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Polymicrogyria and Schizencephaly

Gene: GPSM2

Green List (high evidence)
GPSM2 (G protein signaling modulator 2)
EnsemblGeneIds (GRCh38): ENSG00000121957
EnsemblGeneIds (GRCh37): ENSG00000121957
OMIM: 609245, Gene2Phenotype
GPSM2 is in 14 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Polymicrogyria is a prominent feature of the condtion, reported in at least 10/10 families.
Sources: Expert list
Created: 30 May 2020, 1:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chudley-McCullough syndrome MIM#604213

Publications

Created: 30 May 2020, 1:20 a.m.

Panel version: 0.82

History Filter Activity

30 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gpsm2 has been classified as Green List (High Evidence).

30 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gpsm2 has been classified as Green List (High Evidence).

30 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GPSM2 was added gene: GPSM2 was added to Polymicrogyria and Schizencephaly. Sources: Expert list Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPSM2 were set to 22578326 Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome MIM#604213 Review for gene: GPSM2 was set to GREEN