Skeletal dysplasia
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)

Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Mouse model.
Created: 5 Jul 2021, 10:54 p.m. | Last Modified: 5 Jul 2021, 10:54 p.m.

Panel Version: 0.8209

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis

Publications

Created: 17 Apr 2020, 2:38 a.m.
Last Modified: 17 Apr 2020, 2:38 a.m.
Panel version: Imported from Mendeliome panel version 0.8209

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
UKGTN
Radboud University Medical Center, Nijmegen
Expert Review Green
NHS GMS
Expert list
Emory Genetics Laboratory
Victorian Clinical Genetics Services

Phenotypes

COACH syndrome 216360
Joubert syndrome 7 611560
Meckel syndrome 5 611561

OMIM

610937

Clinvar variants

Variants in RPGRIP1L

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPGRIP1L was added gene: RPGRIP1L was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561

Skeletal dysplasia Gene: RPGRIP1L