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Parathyroid Tumour v0.12 GCM2 Zornitza Stark Marked gene: GCM2 as ready
Parathyroid Tumour v0.12 GCM2 Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence).
Parathyroid Tumour v0.7 GCM2 Chirag Patel Classified gene: GCM2 as Green List (high evidence)
Parathyroid Tumour v0.7 GCM2 Chirag Patel Gene: gcm2 has been classified as Green List (High Evidence).
Parathyroid Tumour v0.4 GCM2 Chirag Patel changed review comment from: Established gene-disease association. Numerous families reported. GOF variants.
Sources: Expert list, Expert Review, Literature; to: Established gene-disease association. Numerous families reported.
Parathyroid neoplasm reported in condition.
GOF variants.
Sources: Expert list, Expert Review, Literature
Parathyroid Tumour v0.1 GCM2 Chirag Patel 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
Added comment: Established gene-disease association. Numerous families reported. GOF variants.
Sources: Expert list, Expert Review, Literature