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Limb disorders

Gene: RPGRIP1L

No list

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

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 11:09 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.
Created: 12 Jul 2016, 12:09 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561

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

Details

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: rpgrip1l has been removed from the panel.

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: rpgrip1l has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to RPGRIP1L. Rating Changed from Green List (high evidence) to No List (delete)

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to RPGRIP1L. Panel: Limb disorders Phenotypes for gene RPGRIP1L were set to COACH syndrome 216360, Joubert syndrome 7 611560, Meckel syndrome 5 611561, Polydactyly

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to RPGRIP1L. Panel: Limb disorders UKGTN was added to RPGRIP1L. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to RPGRIP1L. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to RPGRIP1L. Panel: Limb disorders Expert list was added to RPGRIP1L. Panel: Limb disorders Emory Genetics Laboratory was added to RPGRIP1L. Panel: Limb disorders Model of inheritance for gene RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to RPGRIP1L. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPGRIP1L was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RPGRIP1L was created by Ellen McDonagh