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Pituitary Tumour v2.2 PAM chirag patel Marked gene: PAM as ready
Pituitary Tumour v2.2 PAM chirag patel Gene: pam has been classified as Amber List (Moderate Evidence).
Pituitary Tumour v2.2 PAM chirag patel Classified gene: PAM as Amber List (moderate evidence)
Pituitary Tumour v2.2 PAM chirag patel Gene: pam has been classified as Amber List (Moderate Evidence).
Pituitary Tumour v2.1 PAM chirag patel gene: PAM was added
gene: PAM was added to Pituitary Tumour. Sources: Literature
Mode of inheritance for gene: PAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAM were set to 37388215
Phenotypes for gene: PAM were set to Pituitary gland adenoma MONDO:0006373
Review for gene: PAM was set to AMBER
Added comment: PMID 37388215 reports 7 individuals from 5 unrelated families with heterozygous loss-of-function PAM variants causing pituitary hypersecretion (3 x childhood‑onset gigantism or adult acromegaly, 2 x paediatric ACTH‑dependent Cushing disease). All variants (3 x missense, 1 x frameshift, 1 x 5'UTR) were rare and shown to be loss of function using protein expression and trafficking by Western blotting, splicing by minigene assays, and amidation activity in cell lysates and serum samples.
Sources: Literature
Pituitary Tumour v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Pituitary Tumour v2.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Pituitary Tumour v2.0 AIP Gene migrated from ENSG00000110711 to ENSG00000110711 (gene set migration)
Pituitary Tumour v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Pituitary Tumour v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Pituitary Tumour v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Pituitary Tumour v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Pituitary Tumour v2.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Pituitary Tumour v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Pituitary Tumour v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Pituitary Tumour v1.0 Zornitza Stark promoted panel to version 1.0
Pituitary Tumour v0.20 Zornitza Stark Panel status changed from internal to public
Pituitary Tumour v0.19 SDHD Zornitza Stark Marked gene: SDHD as ready
Pituitary Tumour v0.19 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 SDHC Zornitza Stark Marked gene: SDHC as ready
Pituitary Tumour v0.19 SDHC Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 SDHB Zornitza Stark Marked gene: SDHB as ready
Pituitary Tumour v0.19 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 SDHA Zornitza Stark Marked gene: SDHA as ready
Pituitary Tumour v0.19 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Pituitary Tumour v0.19 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Pituitary Tumour v0.19 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 CDKN1B Zornitza Stark Marked gene: CDKN1B as ready
Pituitary Tumour v0.19 CDKN1B Zornitza Stark Gene: cdkn1b has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 AIP Zornitza Stark Marked gene: AIP as ready
Pituitary Tumour v0.19 AIP Zornitza Stark Gene: aip has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 SDHD chirag patel Classified gene: SDHD as Green List (high evidence)
Pituitary Tumour v0.19 SDHD chirag patel Gene: sdhd has been classified as Green List (High Evidence).
Pituitary Tumour v0.18 SDHC chirag patel Classified gene: SDHC as Green List (high evidence)
Pituitary Tumour v0.18 SDHC chirag patel Gene: sdhc has been classified as Green List (High Evidence).
Pituitary Tumour v0.17 SDHB chirag patel Classified gene: SDHB as Green List (high evidence)
Pituitary Tumour v0.17 SDHB chirag patel Gene: sdhb has been classified as Green List (High Evidence).
Pituitary Tumour v0.16 SDHA chirag patel Classified gene: SDHA as Green List (high evidence)
Pituitary Tumour v0.16 SDHA chirag patel Gene: sdha has been classified as Green List (High Evidence).
Pituitary Tumour v0.15 PRKAR1A chirag patel Classified gene: PRKAR1A as Green List (high evidence)
Pituitary Tumour v0.15 PRKAR1A chirag patel Gene: prkar1a has been classified as Green List (High Evidence).
Pituitary Tumour v0.14 MEN1 chirag patel Classified gene: MEN1 as Green List (high evidence)
Pituitary Tumour v0.14 MEN1 chirag patel Gene: men1 has been classified as Green List (High Evidence).
Pituitary Tumour v0.13 CDKN1B chirag patel Classified gene: CDKN1B as Green List (high evidence)
Pituitary Tumour v0.13 CDKN1B chirag patel Gene: cdkn1b has been classified as Green List (High Evidence).
Pituitary Tumour v0.12 CDKN1B chirag patel Classified gene: CDKN1B as Green List (high evidence)
Pituitary Tumour v0.12 CDKN1B chirag patel Gene: cdkn1b has been classified as Green List (High Evidence).
Pituitary Tumour v0.11 AIP chirag patel Classified gene: AIP as Green List (high evidence)
Pituitary Tumour v0.11 AIP chirag patel Gene: aip has been classified as Green List (High Evidence).
Pituitary Tumour v0.10 SDHD chirag patel gene: SDHD was added
gene: SDHD was added to Pituitary Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHD were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 1, MIM#168000
Review for gene: SDHD was set to GREEN
Added comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition.
Sources: Expert list, Expert Review
Pituitary Tumour v0.9 SDHC chirag patel gene: SDHC was added
gene: SDHC was added to Pituitary Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHC were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 3, MIM#605373
Review for gene: SDHC was set to GREEN
Added comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition.
Sources: Expert list, Expert Review
Pituitary Tumour v0.8 SDHB chirag patel gene: SDHB was added
gene: SDHB was added to Pituitary Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHB were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 4, MIM#115310
Review for gene: SDHB was set to GREEN
Added comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition.
Sources: Expert list, Expert Review
Pituitary Tumour v0.7 SDHA chirag patel gene: SDHA was added
gene: SDHA was added to Pituitary Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHA were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 5, MIM#614165
Review for gene: SDHA was set to GREEN
Added comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition.
Sources: Expert list, Expert Review
Pituitary Tumour v0.6 PRKAR1A chirag patel gene: PRKAR1A was added
gene: PRKAR1A was added to Pituitary Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Carney complex type 1, MONDO:0008057; Carney complex, type 1, MIM#160980
Review for gene: PRKAR1A was set to GREEN
Added comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition.
Sources: Expert list, Expert Review
Pituitary Tumour v0.5 MEN1 chirag patel gene: MEN1 was added
gene: MEN1 was added to Pituitary Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MEN1 were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Multiple endocrine neoplasia type 1, MONDO:0007540; Multiple endocrine neoplasia, type 1, MIM#131100
Review for gene: MEN1 was set to GREEN
Added comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition.
Sources: Expert list, Expert Review
Pituitary Tumour v0.4 CDKN1B chirag patel gene: CDKN1B was added
gene: CDKN1B was added to Pituitary Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN1B were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Multiple endocrine neoplasia type 4, MONDO:0012552; Multiple endocrine neoplasia, type 4, MIM#610755
Review for gene: CDKN1B was set to GREEN
Added comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition.
Sources: Expert list, Expert Review
Pituitary Tumour v0.3 AIP chirag patel gene: AIP was added
gene: AIP was added to Pituitary Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AIP were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Pituitary adenoma predisposition, MIM#102200
Review for gene: AIP was set to GREEN
Added comment: Established gene-disease association for pituitary tumour/adenoma..
Sources: Expert list, Expert Review
Pituitary Tumour v0.2 chirag patel Panel name changed from Pituitary Adenoma to Pituitary Tumour
Pituitary Tumour v0.1 chirag patel Panel name changed from Pituitary Tumour to Pituitary Adenoma
Pituitary Tumour v0.0 chirag patel Added Panel Pituitary Tumour
Set panel types to: Cancer Germline