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Intellectual disability syndromic and non-syndromic

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three families reported; however, two had the same homozygous variant (founder effect).
Sources: Expert list
Created: 12 Feb 2020, 10:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy and acquired microcephaly with or without dystonia, 616763

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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

12 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLEKHG2 was added gene: PLEKHG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG2 were set to 26539891; 24001768; 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