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Intellectual disability

Gene: DHX32

Amber List (moderate evidence)

DHX32 (DEAH-box helicase 32 (putative))
EnsemblGeneIds (GRCh38): ENSG00000089876
EnsemblGeneIds (GRCh37): ENSG00000089876
OMIM: 607960, Gene2Phenotype
DHX32 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is not enough evidence to support a gene-disease association so this gene has been given an Amber rating.
Created: 4 Dec 2020, 2:20 p.m. | Last Modified: 4 Dec 2020, 2:20 p.m.
Panel Version: 3.581

Zornitza Stark (Australian Genomics)

I don't know

PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two unrelated patients with intellectual disability, one with spastic diplegia, and the other characterised as generalised dystonia. Brain abnormalities were identified also.
Sources: Literature
Created: 4 Nov 2020, 3:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability, spastic diplegia, dystonia, brain abnormalities

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability, spastic diplegia, dystonia, brain abnormalities
OMIM
607960
Clinvar variants
Variants in DHX32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: dhx32 has been classified as Amber List (Moderate Evidence).

4 Nov 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: DHX32 was added gene: DHX32 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DHX32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DHX32 were set to 32989326 Phenotypes for gene: DHX32 were set to Intellectual disability, spastic diplegia, dystonia, brain abnormalities Review for gene: DHX32 was set to AMBER