Research panel - Severe Paediatric Disorders
Gene: DHDDS

DHDDS (dehydrodolichyl diphosphate synthase subunit)
EnsemblGeneIds (GRCh38): ENSG00000117682
EnsemblGeneIds (GRCh37): ENSG00000117682
OMIM: 608172, Gene2Phenotype
DHDDS is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DHDDS; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Congenital disorder of glycosylation, type 1bb, 613861 (3) | Developmental delay and seizures with or without movement abnormalities, 617836 (3) | Retinitis pigmentosa 59, 613861 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:18 p.m.
Last Modified: 20 Feb 2020, 5:18 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

?Congenital disorder of glycosylation, type 1bb, 613861
Developmental delay and seizures with or without movement abnormalities, 617836
Retinitis pigmentosa 59, 613861

OMIM

608172

Clinvar variants

Variants in DHDDS

Penetrance

None

Publications

30847515

Panels with this gene