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  3. DCT
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Congenital nystagmus

Gene: DCT

Green List (high evidence)
DCT (dopachrome tautomerase)
EnsemblGeneIds (GRCh38): ENSG00000080166
EnsemblGeneIds (GRCh37): ENSG00000080166
OMIM: 191275, Gene2Phenotype
DCT is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families reported. Functional data including mouse model.
Sources: Literature
Created: 31 Jan 2021, 6:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculocutaneous albinism, type VIII, MIM# 619165

Publications

Created: 31 Jan 2021, 6:26 a.m.

Panel version: Imported from Ocular and Oculocutaneous Albinism panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Literature
Phenotypes
  • Oculocutaneous albinism, type VIII, MIM# 619165
OMIM
191275
Clinvar variants
Variants in DCT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dct has been classified as Green List (High Evidence).

27 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCT were changed from Ocutaneous albinism to Oculocutaneous albinism, type VIII, MIM# 619165

27 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dct has been classified as Green List (High Evidence).

6 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Ocutaneous albinism for gene: DCT

6 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DCT was added gene: DCT was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCT were set to 33100333 Phenotypes for gene: DCT were set to Ocutaneous albinism