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Limb disorders

Gene: DDX59

No list

DDX59 (DEAD-box helicase 59)
EnsemblGeneIds (GRCh38): ENSG00000118197
EnsemblGeneIds (GRCh37): ENSG00000118197
OMIM: 615464, Gene2Phenotype
DDX59 is in 12 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 10:50 p.m.
Mutations identified in 5 families. Postaxial polydactyly reported in 4.
Created: 7 Nov 2018, 1:26 p.m.
Comment on list classification: > 3 families/cases with Orofaciodigital syndrome including polydactyly phenotype and a variant in this gene.
Created: 1 Nov 2018, 5:35 p.m.
DDX59 is associated with Orofaciodigital syndrome V in OMIM and has a probable association in Gene2Phenotype.

Both resources cite PMID: 23972372 which reports 2 families with individuals with Orofaciodigital syndrome and different homozygous variants in DDX59. A further two reports have since been published (PMIDs: 28711741;29127725) reporting 3 more families with Orofaciodigital syndrome and DDX59 variants. 4 of the families have individuals showing a postaxial polydactyly phenotype.

In summary, 5 families reported with Orofaciodigital syndrome and variants in DDX59. In 4 of the families there are individuals showing a postaxial polydactyly phenotype
Created: 1 Nov 2018, 5:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome V 174300

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome V 174300
  • Polydactyly
OMIM
615464
Clinvar variants
Variants in DDX59
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: DDX59 is associated with Orofa

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ddx59 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to DDX59. Rating Changed from Green List (high evidence) to No List (delete)

7 Nov 2018, Gel status: 3

Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Added phenotypes Orofaciodigital syndrome V 174300 for gene: DDX59 Publications for gene DDX59 were changed from 23972372; 28711741; 29127725 to 29127725; 28711741; 23972372 Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ddx59 has been classified as Green List (High Evidence).

1 Nov 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: DDX59 were changed from Polydactyly to Polydactyly; Orofaciodigital syndrome V 174300

1 Nov 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DDX59 were set to

1 Nov 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: DDX59 was changed from to BIALLELIC, autosomal or pseudoautosomal

1 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ddx59 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DDX59 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

DDX59 was created by Ellen McDonagh