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Intellectual disability syndromic and non-syndromic

Gene: DHX30

Green List (high evidence)

DHX30 (DExH-box helicase 30)
EnsemblGeneIds (GRCh38): ENSG00000132153
EnsemblGeneIds (GRCh37): ENSG00000132153
OMIM: 616423, Gene2Phenotype
DHX30 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787).
Created: 22 May 2020, 9:47 a.m. | Last Modified: 22 May 2020, 9:47 a.m.
Panel Version: 0.2646

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804
OMIM
616423
Clinvar variants
Variants in DHX30
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhx30 has been classified as Green List (High Evidence).

22 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DHX30 were changed from to Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804

22 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DHX30 were set to

22 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DHX30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DHX30 was added gene: DHX30 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DHX30 was set to Unknown