DNMT1

DNA methyltransferase 1
OMIM: 126375, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DNMT1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584

Green DNMT1 in Mendeliome


Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • ClinGen
  • Expert Review Green
Phenotypes
  • Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584

Green DNMT1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green DNMT1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • ClinGen
  • Expert Review Green
Phenotypes
  • Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584

Green DNMT1 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
  • Literature
Phenotypes
  • Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584

Green DNMT1 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
  • Literature
Phenotypes
  • Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584