ITM2B

integral membrane protein 2B
OMIM: 603904, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ITM2B in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.62

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dementia, familial British, 176500

Red ITM2B in Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Literature
Phenotypes
  • ischaemic stroke
  • haemorrhagic stroke
  • stroke
  • spastic tetraparesis
  • tetraparesis
  • ementia, familial British 176500
  • Dementia, familial Danish 117300

Green ITM2B in Neurodegenerative disorders - adult onset


Version 2.57
Latest signed off version: v2.56 (16 Dec 2021)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Dementia, familial British, 176500

Red ITM2B in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.173
Latest signed off version: v2.7 (25 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (OMIM)