GCM2

glial cells missing homolog 2
OMIM: 603716, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green GCM2 in Familial hypoparathyroidism

Level 3: Disorders of calcium homeostasis
Level 2: Endocrine disorders
Version 2.5
Latest signed off version: v2.2 (25 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypoparathyroidism, familial isolated, 146200

Amber GCM2 in Familial hyperparathyroidism


Version 2.13
Latest signed off version: v2.3 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypoparathyroidism, familial isolated (146200)
  • Hyperparathyroidism 4 (617343)
Tags
  • for-review

Red GCM2 in Holoprosencephaly

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.17
Latest signed off version: v2.3 (27 Feb 2020)

Component of the following Super Panels:

  • Cerebral malformations
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Red
    • Other
    • UKGTN
    Phenotypes
    • Hypoparathyroidism, familial isolated (AD)