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  2. Ocular coloboma
  3. RPGRIP1L
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Ocular coloboma

Gene: RPGRIP1L

Green List (high evidence)
RPGRIP1L (RPGRIP1 like)
EnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 24 panels

2 reviews

Alice Gardham (Genomics England)

Green List (high evidence)

Coloboma seen in around 40% of individuals with COACH
Created: 17 Nov 2016, 2:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COACH syndrome, 216360

Publications

Created: 17 Nov 2016, 2:25 p.m.

Panel version: 0.54

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

Created: 16 Mar 2016, 10:06 a.m.

Panel version: Imported from "Joubert syndrome" panel version 0.30

History Filter Activity

6 Feb 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

17 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

17 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

RPGRIP1L was created by agardham

17 Nov 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

RPGRIP1L was added to Ocular colobomapanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Literature