Arthrogryposis
Gene: DOLK
DOLK (dolichol kinase)
EnsemblGeneIds (GRCh38): ENSG00000175283
EnsemblGeneIds (GRCh37): ENSG00000175283
OMIM: 610746, Gene2Phenotype
DOLK is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000175283
EnsemblGeneIds (GRCh37): ENSG00000175283
OMIM: 610746, Gene2Phenotype
DOLK is in 13 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: No known association with arthrogryposisCreated: 4 Jan 2017, 3:28 p.m.
Emma Clement (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CDG Im
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert Review
- Phenotypes
-
- CDG Im
- OMIM
- 610746
- Clinvar variants
- Variants in DOLK
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Dilated and arrhythmogenic cardiomyopathy
- Early onset or syndromic epilepsy
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Fetal anomalies
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
4 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DOLK was added to Arthrogryposispanel. Sources: Expert Review
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DOLK was created by ellenmcdonagh