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  3. DHX40
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Ectodermal dysplasia

Gene: DHX40

Red List (low evidence)
DHX40 (DEAH-box helicase 40)
EnsemblGeneIds (GRCh38): ENSG00000108406
EnsemblGeneIds (GRCh37): ENSG00000108406
OMIM: 607570, Gene2Phenotype
DHX40 is in 1 panel

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, 4:02 p.m. | Last Modified: 2 Dec 2019, 4:02 p.m.
Panel Version: 0.26
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: DHX40; 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, 4:19 p.m. | Last Modified: 3 Sep 2019, 4:19 p.m.
Panel Version: 0.18
Created: 3 Sep 2019, 4:19 p.m.
Last Modified: 3 Sep 2019, 4:19 p.m.
Panel version: 0.18

Details

Sources
  • Expert Review Red
Phenotypes
  • Ectodermal dysplasia
OMIM
607570
Clinvar variants
Variants in DHX40
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: dhx40 has been classified as Red List (Low Evidence).

17 Sep 2019, Gel status: 2

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: DHX40 were changed from Corneal dystrophy, posterior polymorphous, 4, 618031; Deafness, autosomal dominant 28, 608641; Ectodermal dysplasia/short stature syndrome, 616029 to Ectodermal dysplasia

3 Sep 2019, Gel status: 2

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: DHX40 were changed from to Corneal dystrophy, posterior polymorphous, 4, 618031; Deafness, autosomal dominant 28, 608641; Ectodermal dysplasia/short stature syndrome, 616029

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: DHX40 was added gene: DHX40 was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: DHX40 was set to