ClinGen Gene Validity Curations

Gene: DNMT1

Green List (high evidence)

DNMT1 (DNA methyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130816
EnsemblGeneIds (GRCh37): ENSG00000130816
OMIM: 126375, Gene2Phenotype
DNMT1 is in 14 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification (dated: 10/14/2016) and DEFINITIVE by Expert curation (dated 02/10/2017). Available here: https://search.clinicalgenome.org/kb/gene-validity/6235
Created: 19 Apr 2017, 2:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

History Filter Activity

23 Jun 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene DNMT1 were set to DNMT1 Methylopathy;ORPHA314404;OMIM 604121;autosomal dominant cerebellar ataxia, deafness and narcolepsy

20 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

DNMT1 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

19 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DNMT1 was created by ellenmcdonagh

19 Apr 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DNMT1 was added to ClinGen Gene Validity Curationspanel. Sources: Other