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Newborns main panel

Gene: ARMC5

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36727580 - 2 cases with path/likely path variants. PMID: 24905064 - 4 families. PMID: 35521700 - 52 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ARMC5. Added phenotypes ACTH-independent macronodular adrenal hyperplasia 2 for gene: ARMC5 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes ACTH-independent macronodular adrenal hyperplasia 2 for gene: ARMC5

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to ARMC5. Added phenotypes ACTH-independent macronodular adrenal hyperplasia 2 for gene: ARMC5 Rating Changed from No List (delete) to Red List (low evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: ARMC5 was added gene: ARMC5 was added to Newborns main panel. Sources: Expert Review Removed 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