Ectodermal dysplasia

Gene: DHX30

Red List (low evidence)

DHX30 (DExH-box helicase 30)
EnsemblGeneIds (GRCh38): ENSG00000132153
EnsemblGeneIds (GRCh37): ENSG00000132153
OMIM: 616423, Gene2Phenotype
DHX30 is in 6 panels

1 review

Catherine Snow (Genomics England)

I don't know

Comment on list classification: Currently no gene disease association can be found.
Created: 2 Dec 2019, 4:01 p.m. | Last Modified: 2 Dec 2019, 4:01 p.m.
Panel Version: 0.25
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: DHX30; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 3 Sep 2019, 4:17 p.m. | Last Modified: 3 Sep 2019, 4:17 p.m.
Panel Version: 0.18


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Expert Review Red
Clinvar variants
Variants in DHX30
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: dhx30 has been classified as Red List (Low Evidence).

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: DHX30 was added gene: DHX30 was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown