GLRB

glycine receptor beta
OMIM: 138492, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green GLRB in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.55

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperekplexia 2, 614619

Green GLRB in Paroxysmal central nervous system disorders


Version 1.3
Signed off v.1.2 on 27 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperekplexia 2, 614619

Red GLRB in Neurodegenerative disorders - adult onset


Version 2.4
Signed off v.2.2 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Hyperekplexia 2, 614619

Red GLRB in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.118
Signed off v.2.2 on 13 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Expert
Phenotypes
  • Hyperekplexia 2, 614619

Green GLRB in Hereditary ataxia - adult onset


Version 2.8
Signed off v.2.7 on 10 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Brain channelopathy v1.46
Phenotypes
  • Hyperekplexia 2, 614619

Red GLRB in Adult onset movement disorder


Version 1.5
Signed off v.1.2 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
Phenotypes
  • Hyperekplexia 2, 614619

Red GLRB in Childhood onset dystonia or chorea or related movement disorder


Version 1.4
Signed off v.1.2 on 25 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • Expert Review Red
  • London North GLH
Phenotypes
  • Hyperekplexia 2, 614619

Green GLRB in Severe Paediatric Disorders


Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperekplexia 2, 614619