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  3. GCM2
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Parathyroid Tumour

Gene: GCM2

Green List (high evidence)
GCM2 (glial cells missing homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000124827
EnsemblGeneIds (GRCh37): ENSG00000124827
OMIM: 603716, Gene2Phenotype
GCM2 is in 8 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Established gene-disease association. Numerous families reported.
Parathyroid neoplasm reported in condition.
GOF variants.
Sources: Expert list, Expert Review, Literature
Created: 12 Sep 2024, 5:20 a.m. | Last Modified: 12 Sep 2024, 5:22 a.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tumor of parathyroid gland, MONDO:0021360; Hyperparathyroidism 4, MONDO:0024570; Hyperparathyroidism 4, MIM#617343

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 12 Sep 2024, 5:20 a.m.
Last Modified: 12 Sep 2024, 5:22 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review
  • Expert list
Phenotypes
  • Tumor of parathyroid gland, MONDO:0021360
  • Hyperparathyroidism 4, MONDO:0024570
  • Hyperparathyroidism 4, MIM#617343
OMIM
603716
Clinvar variants
Variants in GCM2
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gcm2 has been classified as Green List (High Evidence).

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: gcm2 has been classified as Green List (High Evidence).

12 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Chirag Patel (Genetic Health Queensland)

gene: GCM2 was added gene: GCM2 was added to Parathyroid Neoplasm. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GCM2 were set to PMID: 27745835, 34967908, 33471711, 29108698 Phenotypes for gene: GCM2 were set to Tumor of parathyroid gland, MONDO:0021360; Hyperparathyroidism 4, MONDO:0024570; Hyperparathyroidism 4, MIM#617343 Mode of pathogenicity for gene: GCM2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: GCM2 was set to GREEN