This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: DNMT1
DNMT1 (DNA methyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130816
EnsemblGeneIds (GRCh37): ENSG00000130816
OMIM: 126375, Gene2Phenotype
DNMT1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000130816
EnsemblGeneIds (GRCh37): ENSG00000130816
OMIM: 126375, Gene2Phenotype
DNMT1 is in 13 panels
1 review
Ellen McDonagh (Genomics England Curator)
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/6235Created: 19 Apr 2017, 2:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- ClinGen
- Expert Review Green
- Other
- Phenotypes
-
- DNMT1 Methylopathy
- ORPHA314404
- OMIM 604121
- autosomal dominant cerebellar ataxia, deafness and narcolepsy
- OMIM
- 126375
- Clinvar variants
- Variants in DNMT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Familial dysautonomia
- Kleine-Levin syndrome
- Hereditary ataxia with onset in adulthood
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Hereditary neuropathy
- Paroxysmal central nervous system disorders
- Monogenic hearing loss
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