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  2. Primary pigmented nodular adrenocortical disease
  3. ARMC5
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Primary pigmented nodular adrenocortical disease

Gene: ARMC5

Green List (high evidence)
ARMC5 (armadillo repeat containing 5)
EnsemblGeneIds (GRCh38): ENSG00000140691
EnsemblGeneIds (GRCh37): ENSG00000140691
OMIM: 615549, Gene2Phenotype
ARMC5 is in 1 panel

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Created: 5 Feb 2019, 3:04 p.m.
Comment on list classification: Promoted from red to green. There are >3 unrelated cases on OMIM related to this gene. This gene has also been included in this panel as suggested by the GMS Endocrinology Specialist Test Group during the webex call on 28th Jan 2019.
Created: 5 Feb 2019, 2:58 p.m.
Sources: Expert list
Created: 5 Feb 2019, 2:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
ACTH-independent macronodular adrenal hyperplasia 2, 615954

Created: 5 Feb 2019, 2:55 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • ACTH-independent macronodular adrenal hyperplasia 2, OMIM:615954
OMIM
615549
Clinvar variants
Variants in ARMC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ARMC5 were changed from ACTH-independent macronodular adrenal hyperplasia 2, 615954 to ACTH-independent macronodular adrenal hyperplasia 2, OMIM:615954

5 Feb 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ARMC5 were set to

5 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: armc5 has been classified as Green List (High Evidence).

5 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: ARMC5 was added gene: ARMC5 was added to Primary pigmented nodular adrenocortical disease. Sources: Expert list Mode of inheritance for gene: ARMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARMC5 were set to ACTH-independent macronodular adrenal hyperplasia 2, 615954 Review for gene: ARMC5 was set to GREEN