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Gene: ARMC9

Green List (high evidence)

ARMC9 (armadillo repeat containing 9)
EnsemblGeneIds (GRCh38): ENSG00000135931
EnsemblGeneIds (GRCh37): ENSG00000135931
OMIM: 617612, Gene2Phenotype
ARMC9 is in 10 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Joubert syndrome 30, OMIM:617622 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:28625504).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Joubert syndrome 30, OMIM:617622


Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ARMC9 was added gene: ARMC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC9 were set to 28625504 Phenotypes for gene: ARMC9 were set to Joubert syndrome 30