FERRY3 Chromosome 12
FERRY endosomal RAB5 effector complex subunit 3
Upload your DNA to see your personal genotypes for variants in FERRY3.
What This Gene Does
This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
FERRY complex subunits
Locus Type
gene with protein product
Location
12p13.32
Ensembl
ENSG00000047621
Associated Conditions (5)
Intellectual disability
autosomal recessive 66
C12orf4-related disorder
Hypotonia
Attention deficit hyperactivity disorder
Key Variants
RS1381341766
Likely pathogenic
Health Risk
RS1468772495
Likely pathogenic
Intellectual disability, autosomal recessive 66, Intellectual disability
Health Risk
RS756919162
Likely pathogenic
C12orf4-related disorder, C12orf4-related disorder
Health Risk
RS770751706
Likely pathogenic
Intellectual disability, autosomal recessive 66, Intellectual disability
Health Risk
RS1352726114
Pathogenic
Health Risk
RS1943754275
Pathogenic
Health Risk
RS2497522154
Pathogenic
Intellectual disability, autosomal recessive 66, Intellectual disability
Health Risk
RS2497659448
Pathogenic
Intellectual disability, autosomal recessive 66, Intellectual disability
Health Risk
RS750549000
Pathogenic
Health Risk
RS730882197
Pathogenic/Likely pathogenic
Hypotonia, Intellectual disability, Attention deficit hyperactivity disorder
Health Risk
RS749969789
Pathogenic/Likely pathogenic
Intellectual disability, autosomal recessive 66, Intellectual disability
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1381341766 | Health Risk | Likely pathogenic | — |
| RS1468772495 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 66, Intellectual disability |
| RS756919162 | Health Risk | Likely pathogenic | C12orf4-related disorder, C12orf4-related disorder |
| RS770751706 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 66, Intellectual disability |
| RS1352726114 | Health Risk | Pathogenic | — |
| RS1943754275 | Health Risk | Pathogenic | — |
| RS2497522154 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 66, Intellectual disability |
| RS2497659448 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 66, Intellectual disability |
| RS750549000 | Health Risk | Pathogenic | — |
| RS730882197 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, Intellectual disability, Attention deficit hyperactivity disorder |
| RS749969789 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 66, Intellectual disability |