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Intellectual disability

Gene: RIC1

No list

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

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Cleft lip
  • cataract
  • tooth abnormality
  • intellectual disability
  • facial dysmorphism
  • ADHD
OMIM
610354
Clinvar variants
Variants in RIC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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