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Intellectual disability syndromic and non-syndromic

Gene: GPN2

Amber List (moderate evidence)

GPN2 (GPN-loop GTPase 2)
EnsemblGeneIds (GRCh38): ENSG00000142751
EnsemblGeneIds (GRCh37): ENSG00000142751
GPN2 is in 2 panels

1 review

Mark Cleghorn (Royal Melbourne Hospital)

I don't know

GPN2
ESHG talk 2/6/24, unpublished
Thomas Smith, University of Manchester

Biallelic GPN2 proposed to cause Perrault syndrome (SNHL, ovarian dysfunction, NDD)
RNA polymerase assembly factor

4 families (14 affected individuals) w biallalic GPN2 rare missense variants
Segregated w phenotype
Fam 2 and 3 may be distantly related (leaving 3 distinct kindreds)

Clinical features
13/14 SNHL
3/4 families all females of adolescent age or older had primary ovarian insufficiency
4/4 GDD, ataxia (no data on family w 10 affected indiv.)

Some functional work, not conclusive
Sources: Other
Created: 5 Sep 2024, 5:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex neurodevelopmental disorder MONDO:0100038; Perrault syndrome

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
  • Perrault syndrome
Clinvar variants
Variants in GPN2
Penetrance
None
Panels with this gene

History Filter Activity

11 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gpn2 has been classified as Amber List (Moderate Evidence).

11 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gpn2 has been classified as Amber List (Moderate Evidence).

5 Sep 2024, Gel status: 0

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

Mark Cleghorn (Royal Melbourne Hospital)

gene: GPN2 was added gene: GPN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: GPN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPN2 were set to complex neurodevelopmental disorder MONDO:0100038; Perrault syndrome Review for gene: GPN2 was set to AMBER