Neonatal cholestasis
Gene: ARG1EnsemblGeneIds (GRCh38): ENSG00000118520
EnsemblGeneIds (GRCh37): ENSG00000118520
OMIM: 608313, Gene2Phenotype
ARG1 is in 13 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Phenotypes associated with this gene do not appear to be relevant to the Neonatal cholestasis panel.Created: 13 Aug 2018, 3:49 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Argininemia, OMIM:207800
- OMIM
- 608313
- Clinvar variants
- Variants in ARG1
- Penetrance
- None
- Panels with this gene
-
- Hereditary spastic paraplegia
- DDG2P
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Neonatal cholestasis
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ARG1 were changed from Argininemia 207800 to Argininemia, OMIM:207800
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: arg1 has been classified as Red List (Low Evidence).
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: ARG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: ARG1 were set to Argininemia 207800
Added New Source
Ellen McDonagh (Genomics England Curator)ARG1 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)ARG1 was created by Ellen McDonagh