Joubert syndrome

Gene: RPGRIP1L

Red List (low evidence)

RPGRIP1L (RPGRIP1 like)
EnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 25 panels

1 review

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel; positive families within patient cohort. Evidence in literature.
Created: 16 Mar 2016, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome; COACH syndrome; Meckel-Gruber syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

16 Mar 2016, Gel status: 0

Created

Penny Clouston (Oxford)

RPGRIP1L was created by PennyC

16 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

RPGRIP1L was added to Joubert syndromepanel. Sources: Expert Review