ATL3

atlastin GTPase 3
OMIM: 609369, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red ATL3 in Familial dysautonomia


Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory, type IF 615632

Green ATL3 in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literaure
  • Review
Phenotypes
  • Neuropathy, hereditary sensory, type IF, 615632
  • HSN1F

Red ATL3 in Paroxysmal central nervous system disorders


Version 1.10
Signed off v.1.2 on 27 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Neuropathy, hereditary sensory, type IF, 615632
  • HSN1F

Amber ATL3 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.381

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review

Amber ATL3 in Hereditary neuropathy NOT PMP22 copy number


Version 1.19
Signed off v.1.2 on 27 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
  • South West GLH
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH