Albinism or congenital nystagmus

Gene: DCT

Amber List (moderate evidence)

DCT (dopachrome tautomerase)
EnsemblGeneIds (GRCh38): ENSG00000080166
EnsemblGeneIds (GRCh37): ENSG00000080166
OMIM: 191275, Gene2Phenotype
DCT is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Simon Ramsden (NHS). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 33100333 describes 2 unrelated patients with variants in DCT. Both patients had mild hair and skin hypopigmentation, and classical ocular features. The paper also describes a mouse model and zebrafish model which replicate the human phenotype.

There is enough evidence to support a gene-disease associaton. Therefore, this gene should be promoted to Green status at the next review.
Created: 26 Jan 2021, 11:03 a.m. | Last Modified: 26 Jan 2021, 11:03 a.m.
Panel Version: 1.17

Simon Ramsden (NHS)

Green List (high evidence)

This is a newly described gene that should be considered for inclusion in the Albinism panel
Sources: NHS GMS
Created: 25 Jan 2021, 4:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ocutaneous albinism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Ocutaneous albinism
Tags
for-review
OMIM
191275
Clinvar variants
Variants in DCT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: dct has been classified as Amber List (Moderate Evidence).

26 Jan 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: DCT.

26 Jan 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: DCT were set to PMID 33100333

25 Jan 2021, Gel status: 0

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

Simon Ramsden (NHS)

gene: DCT was added gene: DCT was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCT were set to PMID 33100333 Phenotypes for gene: DCT were set to Ocutaneous albinism Penetrance for gene: DCT were set to Complete Review for gene: DCT was set to GREEN