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  2. Joubert syndrome and other neurological ciliopathies
  3. DDX59
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Joubert syndrome and other neurological ciliopathies

Gene: DDX59

Green List (high evidence)
DDX59 (DEAD-box helicase 59)
EnsemblGeneIds (GRCh38): ENSG00000118197
EnsemblGeneIds (GRCh37): ENSG00000118197
OMIM: 615464, Gene2Phenotype
DDX59 is in 11 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Overlapping JS features including cerebellar vermis hypoplasia, cleft palate and postaxial polydactyly. 4 or 5 families reported to date and functional studies performed.

PMID: 29127725; 1 family with OFD
PMID: 23972372; 2 different hom variants reported in 2 families. Functional studies showed impaired ciliary signaling
PMID: 28711741; Same hom variant reported in 2 apparently unrelated consang families. Cerebellar vermis hypoplasia reported in 1 patient
Sources: Expert Review
Created: 18 May 2020, 4:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome V (MIM#174300)

Publications

Created: 18 May 2020, 4:31 a.m.

Panel version: 0.62

History Filter Activity

18 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 May 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: DDX59 was added gene: DDX59 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX59 were set to 29127725; 23972372; 28711741 Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V (MIM#174300) Review for gene: DDX59 was set to GREEN