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  2. Bilateral congenital or childhood onset cataracts
  3. RIC1
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Bilateral congenital or childhood onset cataracts

Gene: RIC1

Amber List (moderate evidence)
RIC1 (RIC1 homolog, RAB6A GEF complex partner 1)
EnsemblGeneIds (GRCh38): ENSG00000107036
EnsemblGeneIds (GRCh37): ENSG00000107036
OMIM: 610354, Gene2Phenotype
RIC1 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Pediatric posterior lenticonus cataract and global developmental delay
Created: 2 Jul 2020, 5:59 p.m. | Last Modified: 2 Jul 2020, 5:59 p.m.
Panel Version: 2.6
Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least one variant reported in numerous members of two families, who shared an autozygous interval, confirming Founder effect (PMID 27878435). Segregation was demonstrated, together with supportive functional and zebra fish model (PMID 31932796).
Created: 2 Jul 2020, 5:58 p.m. | Last Modified: 2 Jul 2020, 5:58 p.m.
Panel Version: 2.4
Created: 2 Jul 2020, 5:58 p.m.
Last Modified: 2 Jul 2020, 5:58 p.m.
Panel version: 2.4

Ivone Leong (Genomics England Curator)

Red List (low evidence)

RIC1 is not associated with a phenotype on OMIM or Gene2Phenotype. PMID: 27878435 reported on 2 consanguineous families from Saudi who have pediatric posterior lenticonus cataract and global developmental delay who have the same missense variant in RIC1. The authors suggested that this could be a founder effect. However, as this is the only reported case there is currently not enough evidence, this gene will be rated red.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32

Publications

Created: 28 Aug 2019, 3:43 p.m.
Last Modified: 28 Aug 2019, 3:43 p.m.
Panel version: 1.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • CATIFA syndrome 618761
Tags
watchlist founder-effect
OMIM
610354
Clinvar variants
Variants in RIC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jul 2020, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RIC1 were changed from Pediatric posterior lenticonus cataract and global developmental delay to CATIFA syndrome 618761

2 Jul 2020, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RIC1 were set to 27878435

2 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ric1 has been classified as Amber List (Moderate Evidence).

2 Jul 2020, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: RIC1.

29 Aug 2019, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag founder-effect tag was added to gene: RIC1.

28 Aug 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: RIC1 was added gene: RIC1 was added to Cataracts. Sources: Literature,Expert Review Red Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIC1 were set to 27878435 Phenotypes for gene: RIC1 were set to Pediatric posterior lenticonus cataract and global developmental delay