Familial dysautonomia
Gene: ATL1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Not associated with autonomic dysfunctionCreated: 21 Nov 2016, 9:45 a.m.
Associated with phenotype in OMIM, not in G2P / DD. Only three variants reported in Neuropathy, hereditary sensory, type ID 613708, numerous variants reported in Spastic paraplegia 3A, autosomal dominant 182600, which is not relevant to this panelCreated: 30 Aug 2016, 1:55 p.m.
Comment on phenotypes: Variants also reported in Spastic paraplegia 3A, autosomal dominant 182600Created: 30 Aug 2016, 1:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, hereditary sensory, type ID 613708
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).
Publications for ATL1 were set to 21194679; 22340599
Phenotypes for ATL1 were set to Neuropathy, hereditary sensory, type ID 613708
ATL1 was added to Familial dysautonomiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
ATL1 was created by sleigh