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Hearing loss

Gene: DNMT1

Green List (high evidence)

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

4 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Imprinted gene list checked.
Created: 17 Feb 2016, 2:24 p.m.

Jun Shen (Harvard Medical School)

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

Phenotypes
#604121:Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant[Sensorineural deafness; Optic atrophy (in some patients); Limb lymphedema (in some patients); NarcolepsyExcessive daytime sleepinessREM sleep behavior disorderCerebellar ataxiaSpasticityHyperreflexiaMemory lossDementiaPrimitive reflexesCerebellar atrophy; Sensorimotor polyneuropathy; Depression (in some patients)Psychosis (in some patients); Decreased CSF hypocretin]; #614116:Neuropathy, hereditary sensory, type IE[Hearing loss, sensorineural; Ulceration of the toesOsteomyelitisAmputation; Memory impairment, progressiveDementia, frontal lobeDecreased speechCerebral atrophyFrontal lobe atrophyHypometabolism of the frontal lobe and thalamic regions; Sensory neuropathy affecting all modalities primarily affecting the lower limbs with some mild upper limb involvementHyporeflexiaLancinating pains (2 patients)Almost complete loss of myelinated fibers seen on sural nerve biopsyLoss of unmyelinated fibers; ApathySomnolenceImpulsivityIrritabilityDistractibilityDelirium]

Publications

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:17 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
  • Dementia, Deafness, and Sensory Neuropathy
  • Neuropathy, hereditary sensory, type IE, 614116
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
OMIM
126375
Clinvar variants
Variants in DNMT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DNMT1 were set to PMID:10325416; 10433969; 10449766; 10545955; 10615135; 10721735; 10753866; 10801130; 10888872; 10888886; 11005794; 11074872; 11290321; 11728338; 11884600; 11932749; 11940649; 12145218; 12473678; 12496760; 12702876; 12915469; 14615517; 14684836; 14749379; 14978102; 15215866; 15311210; 1559980; 15657147; 15684088; 15870198; 1594447; 1606615; 16357870; 16998846; 17312023; 17322882; 17359920; 17470536; 17673620; 17960246; 17994007; 18194272; 19098913; 19246518; 19433415; 1968655; 20081831; 2014266; 21163962; 21532572; 22323818; 22328086; 23365052; 24013172; 24107992; 3210246; 7898717; 8747854; 8917520; 8940105; 9302295; 9333948; 9449671

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for DNMT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNMT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DNMT1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNMT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DNMT1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DNMT1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen