Polycystic liver disease interim

Gene: RPGRIP1L

Red List (low evidence)

RPGRIP1L (RPGRIP1 like)
EnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 26 panels

1 review

Ivone Leong (Genomics England Curator)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating.
Created: 12 Mar 2019, 1:36 p.m.

History Filter Activity

12 Mar 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rpgrip1l has been classified as Red List (Low Evidence).

12 Mar 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: RPGRIP1L was added gene: RPGRIP1L was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1L were set to 19574260; 17558409 Phenotypes for gene: RPGRIP1L were set to COACH syndrome (216360); Joubert syndrome 7 (611560); Meckel syndrome 5 (611561)