Retinal disorders
Gene: DCTEnsemblGeneIds (GRCh38): ENSG00000080166
EnsemblGeneIds (GRCh37): ENSG00000080166
OMIM: 191275, Gene2Phenotype
DCT is in 2 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:49 p.m. | Last Modified: 24 Feb 2025, 5:49 p.m.
Panel Version: 7.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
DCT variants have been associated with Oculocutaneous albinism, type VIII (OMIM:619165). At least six DCT variants have been identified in four unrelated cases of OMIM:619165 (PMID: 33100333;33959807). Examination of the patients carrying DCT variants, it became apparent that they had phenotypic spectrum ranging from isolated infantile nystagmus to oculocutaneous albinism. Functional studies showed that the variants resulted in loss of function and a mouse model had a hypopigmented coat, together with hypopigmentation of the retinal pigmented epithelium (RPE), thereby indicating that defective RPE melanogenesis could be associated with eye and vision defects (PMID: 33100333;33959807).Created: 1 Oct 2024, 4:21 p.m. | Last Modified: 1 Oct 2024, 4:21 p.m.
Panel Version: 6.15
Mohammed Derar (University of Leeds)
Biallelic variants in DCT are reported to cause oculocutaneous albinism type 8 in multiple unrelated and affected families. This form of albinism has subtle hypopigmentation and displays the classical ocular manifestations of foveal hypoplasia, iris transillumination defect and fundus hypopigmentation. It is therefore imperative to sprobe DCT in patients with retinal abnormalities and presumbly normal pigmentation.
Sources: LiteratureCreated: 3 Jul 2024, 12:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
oculocutaneous albinism; foveal hypoplasia; chiasmal misrouting; iris transillumination defect; nystagmus; ocular hypopigmentation
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Oculocutaneous albinism, type VIII, OMIM:619165
- oculocutaneous albinism type 8, MONDO:0030899
- OMIM
- 191275
- Clinvar variants
- Variants in DCT
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: DCT. Tag Q3_24_NHS_review was removed from gene: DCT.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to DCT. Source Expert Review Green was added to DCT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_MOI was removed from gene: DCT.
Added Tag, Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: DCT. Tag Q3_24_NHS_review tag was added to gene: DCT. Tag Q3_24_MOI tag was added to gene: DCT.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: DCT were changed from oculocutaneous albinism; foveal hypoplasia; chiasmal misrouting; iris transillumination defect; nystagmus; ocular hypopigmentation to Oculocutaneous albinism, type VIII, OMIM:619165; oculocutaneous albinism type 8, MONDO:0030899
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DCT were set to (Pennamen et al., 2021) (PMID: 33100333); (Volk et al., 2021) (PMID: 33959807)
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: dct has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Mohammed Derar (University of Leeds)gene: DCT was added gene: DCT was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCT were set to (Pennamen et al., 2021) (PMID: 33100333); (Volk et al., 2021) (PMID: 33959807) Phenotypes for gene: DCT were set to oculocutaneous albinism; foveal hypoplasia; chiasmal misrouting; iris transillumination defect; nystagmus; ocular hypopigmentation Penetrance for gene: DCT were set to Complete Review for gene: DCT was set to GREEN