Albinism or congenital nystagmus
Gene: DCTThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:42 p.m. | Last Modified: 3 Mar 2022, 4:42 p.m.
Panel Version: 1.22
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
This is a newly described gene that should be considered for inclusion in the Albinism panel
Sources: NHS GMSCreated: 25 Jan 2021, 4:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ocutaneous albinism
Publications
Tag for-review was removed from gene: DCT.
Source Expert Review Green was added to DCT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: dct has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: DCT.
Publications for gene: DCT were set to PMID 33100333
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