Glaucoma (developmental)
Gene: DHDDSEnsemblGeneIds (GRCh38): ENSG00000117682
EnsemblGeneIds (GRCh37): ENSG00000117682
OMIM: 608172, Gene2Phenotype
DHDDS is in 12 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 59; 613861
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 59, 613861
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Retinitis pigmentosa 59, OMIM:613861
- OMIM
- 608172
- Clinvar variants
- Variants in DHDDS
- Penetrance
- Complete
- Panels with this gene
-
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
- Retinal disorders
- DDG2P
- Fetal anomalies
- Structural eye disease
- Early onset or syndromic epilepsy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DHDDS were changed from Eye Disorders to Retinitis pigmentosa 59, OMIM:613861
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: DHDDS was changed from to BIALLELIC, autosomal or pseudoautosomal
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)DHDDS was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory