1. Panels
  2. Macrocephaly_Megalencephaly
  3. TRIO
STRs in panel
Prev Next
Regions in panel
Prev Next

Macrocephaly_Megalencephaly

Gene: TRIO

Green List (high evidence)
TRIO (trio Rho guanine nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000038382
EnsemblGeneIds (GRCh37): ENSG00000038382
OMIM: 601893, Gene2Phenotype
TRIO is in 8 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

LOF = microcephaly, GOF = macrocephaly

PMID: 32109419: Missense within the GEFD1 domain have lost the ability to bind RAC1 (LOF) causing microcephaly, (with p.P1461L the exception). Missense within the 7th spectrin repeat cause increased RAC1 activation (GOF) causing macrocephaly

PTCs = LOF

PMID: 32109419 - 7/9 patients with global dev delay also had macrocephaly
Created: 30 May 2021, 10:37 p.m. | Last Modified: 30 May 2021, 10:37 p.m.
Panel Version: 0.72
LOF = microcephaly, GOF = macrocephaly

PMID: 32109419: Missense within the GEFD1 domain have lost the ability to bind RAC1 (LOF) causing microcephaly, (with p.P1461L the exception). Missense within the 7th spectrin repeat cause increased RAC1 activation (GOF) causing macrocephaly

PTCs = LOF
Sources: Literature
Created: 30 May 2021, 10:34 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825

Publications

Mode of pathogenicity
Other

Created: 30 May 2021, 10:34 p.m.

Panel version: 0.72

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061
  • Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825
OMIM
601893
Clinvar variants
Variants in TRIO
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

31 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRIO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 May 2021, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: TRIO was added gene: TRIO was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIO were set to PMID: 32109419; 28928363 Phenotypes for gene: TRIO were set to Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825 Mode of pathogenicity for gene: TRIO was set to Other Review for gene: TRIO was set to GREEN