Neonatal cholestasis

Gene: ARG1

Red List (low evidence)

ARG1 (arginase 1)
EnsemblGeneIds (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.

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

13 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: arg1 has been classified as Red List (Low Evidence).

8 Aug 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: ARG1 was changed from to BIALLELIC, autosomal or pseudoautosomal

8 Aug 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: ARG1 were set to Argininemia 207800

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARG1 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services

21 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ARG1 was created by Ellen McDonagh