Congenital Disorders of Glycosylation
Gene: DHDDSEnsemblGeneIds (GRCh38): ENSG00000117682
EnsemblGeneIds (GRCh37): ENSG00000117682
OMIM: 608172, Gene2Phenotype
DHDDS is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
ClinGen have lumped the CDG together with the RP -- likely represent a continuum of severity rather than distinct disorders.Created: 29 Nov 2024, 4:37 a.m. | Last Modified: 29 Nov 2024, 4:37 a.m.
Panel Version: 1.56
Single family reported with evidence of CDG. Bi-allelic variants in this gene have an established association with retinitis pigmentosa, and mono-allelic variants with a neurodevelopmental disorder.Created: 22 Jul 2020, 8:49 a.m. | Last Modified: 22 Jul 2020, 8:49 a.m.
Panel Version: 0.139
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type 1bb, MIM# 613861
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Congenital disorder of glycosylation, type 1bb, MIM# 613861
- OMIM
- 608172
- Clinvar variants
- Variants in DHDDS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Early-onset Parkinson disease
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DHDDS were set to 27343064
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhdds has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhdds has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DHDDS were changed from to Congenital disorder of glycosylation, type 1bb, MIM# 613861
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DHDDS were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: DHDDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhdds has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DHDDS was added gene: DHDDS was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DHDDS was set to Unknown