Familial dysautonomia

Gene: DNMT1

Red List (low evidence)

DNMT1 (DNA methyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130816
EnsemblGeneIds (GRCh37): ENSG00000130816
OMIM: 126375, Gene2Phenotype
DNMT1 is in 16 panels

3 reviews

Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Alice Gardham (Genomics England)

Comment on list classification: Not associated with dysautonomia
Created: 17 Nov 2016, 4:30 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P / DD. Three variants (p.Y495C, p.Y495H & p.D490_P491delinsEY) reported in six unrelated families from Scotland, America, Japan and Europe, supporting functional evidence provided for p.Y495C & p.D490_P491delinsEY, pathogenicity of p.Y495H likely as it is affected the same residue as p.Y495C
Created: 30 Aug 2016, 12:49 p.m.
Comment on phenotypes: Variants also reported in Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 604121
Created: 30 Aug 2016, 12:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuropathy, hereditary sensory, type IE 614116

Publications

History Filter Activity

1 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.

17 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

17 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

30 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DNMT1 were set to Neuropathy, hereditary sensory, type IE 614116

30 Aug 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

DNMT1 was added to Familial dysautonomiapanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

30 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DNMT1 was created by sleigh