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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. DHX38
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: DHX38

Amber List (moderate evidence)
DHX38 (DEAH-box helicase 38)
EnsemblGeneIds (GRCh38): ENSG00000140829
EnsemblGeneIds (GRCh37): ENSG00000140829
OMIM: 605584, Gene2Phenotype
DHX38 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three families reported. However, two of the families are consanguineous families from the same geographical area and have the same homozygous missense variants, likely representing a founder variant.
Created: 10 Oct 2020, 7:13 a.m. | Last Modified: 10 Oct 2020, 7:13 a.m.
Panel Version: 0.66

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 84, MIM# 618220

Publications

Created: 10 Oct 2020, 7:13 a.m.
Last Modified: 10 Oct 2020, 7:13 a.m.
Panel version: 0.66

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 84, MIM#618220
OMIM
605584
Clinvar variants
Variants in DHX38
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhx38 has been classified as Amber List (Moderate Evidence).

10 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DHX38 were changed from Retinitis pigmentosa 84, 618220 to Retinitis pigmentosa 84, MIM#618220

10 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DHX38 were set to

10 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhx38 has been classified as Amber List (Moderate Evidence).

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DHX38 was added gene: DHX38 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DHX38 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHX38 were set to Retinitis pigmentosa 84, 618220