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  3. ARPP21
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Motor Neurone Disease

Gene: ARPP21

Red List (low evidence)
ARPP21 (cAMP regulated phosphoprotein 21)
EnsemblGeneIds (GRCh38): ENSG00000172995
EnsemblGeneIds (GRCh37): ENSG00000172995
OMIM: 605488, Gene2Phenotype
ARPP21 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Limited gene-disease validity classification by ClinGen ALS spectrum disorders GCEP - 10/01/2023
Sources: ClinGen
Created: 21 Jun 2023, 10:18 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
amyotrophic lateral sclerosis MONDO:0004976

Publications

Created: 21 Jun 2023, 10:18 p.m.

Panel version: 0.174

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
Phenotypes
  • amyotrophic lateral sclerosis MONDO:0004976
OMIM
605488
Clinvar variants
Variants in ARPP21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARPP21 was added gene: ARPP21 was added to Motor Neurone Disease. Sources: ClinGen Mode of inheritance for gene: ARPP21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARPP21 were set to 30811981; 31653410; 35525134 Phenotypes for gene: ARPP21 were set to amyotrophic lateral sclerosis MONDO:0004976 Review for gene: ARPP21 was set to RED