GLRB

glycine receptor beta
OMIM: 138492, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green GLRB in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 2, MIM# 614619

Green GLRB in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 2, MIM# 614619

Green GLRB in Neurotransmitter Defects


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 2, MIM# 614619

Green GLRB in Paroxysmal Dyskinesia


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 2, MIM# 614619

Red GLRB in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Hyperekplexia 2, autosomal recessive

Red GLRB in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
  • BeginNGS
Phenotypes
  • Hyperekplexia 2, autosomal recessive
  • Hyperekplexia 2, MIM# 614619