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  3. ARMC8
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Ciliopathies

Gene: ARMC8

Red List (low evidence)
ARMC8 (armadillo repeat containing 8)
EnsemblGeneIds (GRCh38): ENSG00000114098
EnsemblGeneIds (GRCh37): ENSG00000114098
ARMC8 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cannot find evidence for Mendelian gene disease association.
Created: 4 May 2020, 10:28 a.m. | Last Modified: 4 May 2020, 10:28 a.m.
Panel Version: 0.43
Created: 4 May 2020, 10:28 a.m.
Last Modified: 4 May 2020, 10:28 a.m.
Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.43

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

No OMIM description

Uniprot description: Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1.

Not a single patient found with a variant in this gene. Single patient in Decipher has a de novo PTC and is reported is a phenotype of abnormality of the nervous system. Patient also has another de novo PTC in JMJD4, both classed as VUS
Created: 4 May 2020, 4:24 a.m. | Last Modified: 4 May 2020, 4:24 a.m.
Panel Version: 0.78
Created: 4 May 2020, 4:24 a.m.
Last Modified: 4 May 2020, 4:24 a.m.
Panel version: 0.78

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Clinvar variants
Variants in ARMC8
Penetrance
None
Panels with this gene

History Filter Activity

4 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: armc8 has been classified as Red List (Low Evidence).

4 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: armc8 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARMC8 was added gene: ARMC8 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARMC8 was set to Unknown