Ataxia - paediatric
Gene: RPGRIP1L

RPGRIP1L (RPGRIP1 like)
EnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ataxia reported in affected individuals.
Created: 17 Apr 2020, 2:38 a.m. | Last Modified: 17 Apr 2020, 2:38 a.m.

Panel Version: 0.167

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 7, MIM# 611560

Created: 17 Apr 2020, 2:38 a.m.
Last Modified: 17 Apr 2020, 2:38 a.m.
Panel version: 0.167

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Joubert syndrome 7, MIM# 611560

OMIM

610937

Clinvar variants

Variants in RPGRIP1L

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpgrip1l has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPGRIP1L were changed from Joubert syndrome 7 to Joubert syndrome 7, MIM# 611560

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RPGRIP1L was added gene: RPGRIP1L was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7

Ataxia - paediatric Gene: RPGRIP1L