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  3. PLEKHG2
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Leukodystrophy - paediatric

Gene: PLEKHG2

Amber List (moderate evidence)
PLEKHG2 (pleckstrin homology and RhoGEF domain containing G2)
EnsemblGeneIds (GRCh38): ENSG00000090924
EnsemblGeneIds (GRCh37): ENSG00000090924
OMIM: 611893, Gene2Phenotype
PLEKHG2 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

5 children from 2 unrelated consanguineous families with leukodystrophy and acquired microcephaly with or without dystonia, and homozygous for the same variant. Limited functional assays were conducted.
Sources: Expert list
Created: 19 Jan 2020, 3:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy and acquired microcephaly with or without dystonia 616763

Publications

Created: 19 Jan 2020, 3:24 a.m.

Panel version: 0.31

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Further family identified, promote to Amber.
Created: 12 Feb 2020, 10:31 a.m. | Last Modified: 12 Feb 2020, 10:31 a.m.
Panel Version: 0.41
Five individuals from two unrelated families reported, same homozygous missense variant.
Sources: Expert list
Created: 5 Jan 2020, 5:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763

Publications

Created: 5 Jan 2020, 5:52 a.m.

Panel version: Imported from Leukodystrophy panel version 0.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Leukodystrophy and acquired microcephaly with or without dystonia 616763
OMIM
611893
Clinvar variants
Variants in PLEKHG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: plekhg2 has been classified as Amber List (Moderate Evidence).

19 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PLEKHG2 was added gene: PLEKHG2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG2 were set to 26573021 Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia 616763 Review for gene: PLEKHG2 was set to AMBER