Cerebral Palsy
Gene: ARMC9
ARMC9 (armadillo repeat containing 9)
EnsemblGeneIds (GRCh38): ENSG00000135931
EnsemblGeneIds (GRCh37): ENSG00000135931
OMIM: 617612, Gene2Phenotype
ARMC9 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000135931
EnsemblGeneIds (GRCh37): ENSG00000135931
OMIM: 617612, Gene2Phenotype
ARMC9 is in 8 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with biallelic variants (1 stopgain, 1 missense) reported in large-scale exome sequencing study (PMID: 38693247).
Sources: LiteratureCreated: 28 May 2024, 4:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 30, MIM#617622
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Joubert syndrome 30, MIM#617622
- OMIM
- 617612
- Clinvar variants
- Variants in ARMC9
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
29 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: armc9 has been classified as Red List (Low Evidence).
29 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: armc9 has been classified as Red List (Low Evidence).
28 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: ARMC9 was added gene: ARMC9 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC9 were set to PMID: 38693247 Phenotypes for gene: ARMC9 were set to Joubert syndrome 30, MIM#617622 Review for gene: ARMC9 was set to RED