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  3. RIC1
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Intellectual disability

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 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, 5:55 p.m. | Last Modified: 2 Jul 2020, 5:55 p.m.
Panel Version: 3.134
Created: 2 Jul 2020, 5:55 p.m.
Last Modified: 2 Jul 2020, 5:55 p.m.
Panel version: 3.134

Zornitza Stark (Australian Genomics)

I don't know

Zebrafish model and consanguineous families but homozygous-by-descent. One to watch.
Sources: Expert list
Created: 10 Mar 2020, 4:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD

Publications

Created: 10 Mar 2020, 4:56 a.m.

Panel version: 3.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • CATIFA syndrome 618761
  • Cleft lip
  • cataract
  • tooth abnormality
  • intellectual disability
  • facial dysmorphism
  • ADHD
Tags
watchlist founder-effect
OMIM
610354
Clinvar variants
Variants in RIC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

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

2 Jul 2020, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RIC1 were set to 31932796

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: 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: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: RIC1.

2 Jul 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RIC1 were changed from Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD to CATIFA syndrome 618761; Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD

10 Mar 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RIC1 was added gene: RIC1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIC1 were set to 31932796 Phenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD Review for gene: RIC1 was set to AMBER