Familial dysautonomia
Gene: DNMT1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Not associated with dysautonomiaCreated: 17 Nov 2016, 4:30 p.m.
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.Y495CCreated: 30 Aug 2016, 12:49 p.m.
Comment on phenotypes: Variants also reported in Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 604121Created: 30 Aug 2016, 12:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, hereditary sensory, type IE 614116
Publications
Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for DNMT1 were set to Neuropathy, hereditary sensory, type IE 614116
DNMT1 was added to Familial dysautonomiapanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
DNMT1 was created by sleigh