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Primary pigmented nodular adrenocortical disease v1.7 | PRKAR1A | Ivone Leong Phenotypes for gene: PRKAR1A were changed from Pigmented nodular adrenocortical disease, primary, 1, 610489 to Pigmented nodular adrenocortical disease, primary, 1, OMIM:610489 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.6 | PRKAR1A | Ivone Leong commented on gene: PRKAR1A: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.4 | PRKAR1A | Ivone Leong Classified gene: PRKAR1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.4 | PRKAR1A | Ivone Leong Added comment: Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating. There are also >3 unrelated cases in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.4 | PRKAR1A | Ivone Leong Gene: prkar1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.3 | PRKAR1A | Martina Owens reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 12213893; Phenotypes: Pigmented nodular adrenocortical disease, primary, 1, 610489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.2 | PRKAR1A |
Ivone Leong gene: PRKAR1A was added gene: PRKAR1A was added to Primary pigmented nodular adrenocortical disease. Sources: NHS GMS Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAR1A were set to 12213893 Phenotypes for gene: PRKAR1A were set to Pigmented nodular adrenocortical disease, primary, 1, 610489 |